Canonical Allele Identifier: CA6831677
Gene: HNF1A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.120978923G>C
GRCh37 chr12:g.121416726G>C
Revel Score:
ENST00000257555 (MANE Select) 0.313
ENST00000535125 0.313
ENST00000543536 0.313
ENST00000544680 0.313
ENST00000537424 0.313
ENST00000543027 0.313
ENST00000545458 0.313
ENST00000541395 0.313
ENST00000340577 0.313
ENST00000344370 0.313
ENST00000544413 0.313
gnomAD v2:
12:121416726 G / C
gnomAD v3:
12:120978923 G / C
gnomAD v4:
chr12-120978923-G-C
Joint Max Group AF 0.00209048 (AFR)
Genomes Max Group AF 0.00211684 (AFR)
Exomes Max Group AF 0.00180568 (AFR)
ClinVar RCV:
RCV000913419
RCV002464345
ClinVar Variation:
737626
dbSNP:
142318174
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978923G>C , CM000674.2:g.120978923G>C GRCh38
NC_000012.11:g.121416726G>C , CM000674.1:g.121416726G>C GRCh37
NC_000012.10:g.119901109G>C NCBI36
NG_011731.2:g.5178G>C , LRG_522:g.5178G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.155G>C ENSP00000453965.2:p.Gly52Ala
ENST00000257555.11:c.155G>C MANE Select ENSP00000257555.5:p.Gly52Ala
ENST00000257555.10:c.155G>C ENSP00000257555.4:p.Gly52Ala
ENST00000400024.6:c.155G>C ENSP00000476181.1:p.Gly52Ala
ENST00000402929.5:n.290G>C
ENST00000535955.5:n.42+231G>C
ENST00000538626.2:n.190+83G>C
ENST00000538646.5:c.155G>C ENSP00000443964.1:p.Gly52Ala
ENST00000540108.1:c.155G>C ENSP00000445445.1:p.Gly52Ala
ENST00000541395.5:c.155G>C ENSP00000443112.1:p.Gly52Ala
ENST00000541924.5:c.155G>C ENSP00000440361.1:p.Gly52Ala
ENST00000543427.5:c.155G>C ENSP00000439721.2:p.Gly52Ala
ENST00000544413.2:c.155G>C ENSP00000438804.1:p.Gly52Ala
ENST00000544574.5:c.72+83G>C ENSP00000438565.1:n.72+83G>C
ENST00000560968.5:c.298G>C
ENST00000615446.4:c.-258+212G>C ENSP00000483994.1:n.-258+212G>C
ENST00000617366.4:c.155G>C ENSP00000481967.1:p.Gly52Ala
NM_000545.5:c.155G>C , LRG_522t1:c.155G>C NP_000536.5:p.Gly52Ala
NM_000545.6:c.155G>C NP_000536.5:p.Gly52Ala
NM_001306179.1:c.155G>C NP_001293108.1:p.Gly52Ala
XM_005253931.2:c.155G>C XP_005253988.1:p.Gly52Ala
XM_024449168.1:c.155G>C XP_024304936.1:p.Gly52Ala
NM_000545.8:c.155G>C MANE Select NP_000536.6:p.Gly52Ala
NM_001306179.2:c.155G>C NP_001293108.2:p.Gly52Ala
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