Canonical Allele Identifier: CA386952583
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 1327597
ClinVar RCV Id: RCV001794541
dbSNP Id: rs1566092362
MyVariant Identifiers: chr12:g.121416630G>C (hg19) chr12:g.120978827G>C (hg38)
ERepo: CA386952583/MONDO:0015967/017
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978827G>C , CM000674.2:g.120978827G>C GRCh38
NC_000012.11:g.121416630G>C , CM000674.1:g.121416630G>C GRCh37
NC_000012.10:g.119901013G>C NCBI36
NG_011731.2:g.5082G>C , LRG_522:g.5082G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000560968.6:c.59G>C ENSP00000453965.2:p.Gly20Ala
ENST00000257555.11:c.59G>C MANE Select ENSP00000257555.5:p.Gly20Ala
ENST00000257555.10:c.59G>C ENSP00000257555.4:p.Gly20Ala
ENST00000400024.6:c.59G>C ENSP00000476181.1:p.Gly20Ala
ENST00000402929.5:n.194G>C
ENST00000535955.5:n.42+135G>C
ENST00000538626.2:n.177G>C
ENST00000538646.5:c.59G>C ENSP00000443964.1:p.Gly20Ala
ENST00000540108.1:c.59G>C ENSP00000445445.1:p.Gly20Ala
ENST00000541395.5:c.59G>C ENSP00000443112.1:p.Gly20Ala
ENST00000541924.5:c.59G>C ENSP00000440361.1:p.Gly20Ala
ENST00000543427.5:c.59G>C ENSP00000439721.2:p.Gly20Ala
ENST00000544413.2:c.59G>C ENSP00000438804.1:p.Gly20Ala
ENST00000544574.5:c.59G>C ENSP00000438565.1:p.Gly20Ala
ENST00000560968.5:c.202G>C
ENST00000615446.4:c.-258+116G>C ENSP00000483994.1:n.-258+116G>C
ENST00000617366.4:c.59G>C ENSP00000481967.1:p.Gly20Ala
NM_000545.5:c.59G>C , LRG_522t1:c.59G>C NP_000536.5:p.Gly20Ala
NM_000545.6:c.59G>C NP_000536.5:p.Gly20Ala
NM_001306179.1:c.59G>C NP_001293108.1:p.Gly20Ala
XM_005253931.2:c.59G>C XP_005253988.1:p.Gly20Ala
XM_024449168.1:c.59G>C XP_024304936.1:p.Gly20Ala
NM_000545.8:c.59G>C MANE Select NP_000536.6:p.Gly20Ala
NM_001306179.2:c.59G>C NP_001293108.2:p.Gly20Ala
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