Canonical Allele Identifier: CA386970283
Gene: HNF1A HGNC NCBI

Linked Data

gnomAD v4: 12-120997615-T-C
MyVariant Identifiers: chr12:g.121435418T>C (hg19) chr12:g.120997615T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120997615T>C , CM000674.2:g.120997615T>C GRCh38
NC_000012.11:g.121435418T>C , CM000674.1:g.121435418T>C GRCh37
NC_000012.10:g.119919801T>C NCBI36
NG_011731.2:g.23870T>C , LRG_522:g.23870T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*198T>C ENSP00000453965.2:n.*198T>C
ENST00000257555.11:c.1451T>C MANE Select ENSP00000257555.5:p.Val484Ala
ENST00000257555.10:c.1451T>C ENSP00000257555.4:p.Val484Ala
ENST00000400024.6:c.1451T>C ENSP00000476181.1:p.Val484Ala
ENST00000402929.5:n.2317T>C
ENST00000535955.5:n.167T>C
ENST00000538626.2:n.315T>C
ENST00000538646.5:c.*427T>C ENSP00000443964.1:n.*427T>C
ENST00000540108.1:c.*891T>C ENSP00000445445.1:n.*891T>C
ENST00000541395.5:c.1451T>C ENSP00000443112.1:p.Val484Ala
ENST00000541924.5:c.*465T>C ENSP00000440361.1:n.*465T>C
ENST00000543255.1:n.495T>C
ENST00000543427.5:c.914T>C ENSP00000439721.2:p.Val305Ala
ENST00000544413.2:c.1451T>C ENSP00000438804.1:p.Val484Ala
ENST00000544574.5:c.*214T>C ENSP00000438565.1:n.*214T>C
ENST00000560968.5:c.1268T>C
ENST00000615446.4:c.239T>C ENSP00000483994.1:p.Val80Ala
ENST00000617366.4:c.587-19T>C ENSP00000481967.1:n.587-19T>C
NM_000545.5:c.1451T>C , LRG_522t1:c.1451T>C NP_000536.5:p.Val484Ala
NM_000545.6:c.1451T>C NP_000536.5:p.Val484Ala
NM_001306179.1:c.1451T>C NP_001293108.1:p.Val484Ala
XM_005253931.2:c.1451T>C XP_005253988.1:p.Val484Ala
XM_024449168.1:c.1451T>C XP_024304936.1:p.Val484Ala
NM_000545.8:c.1451T>C MANE Select NP_000536.6:p.Val484Ala
NM_001306179.2:c.1451T>C NP_001293108.2:p.Val484Ala
Search 100 bp 5'
Search 100 bp 3'