Canonical Allele Identifier: CA386970105

Gene: HNF1A

Linked Data

• dbSNP Id: rs1593061687
• gnomAD v4: 12-120997536-A-C
• MyVariant Identifiers: chr12:g.121435339A>C (hg19) ; chr12:g.120997536A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997536A>C , CM000674.2:g.120997536A>C	GRCh38
NC_000012.11:g.121435339A>C , CM000674.1:g.121435339A>C	GRCh37
NC_000012.10:g.119919722A>C	NCBI36
NG_011731.2:g.23791A>C , LRG_522:g.23791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*119A>C	ENSP00000453965.2:n.*119A>C
ENST00000257555.11:c.1372A>C MANE Select	ENSP00000257555.5:p.Thr458Pro
ENST00000257555.10:c.1372A>C	ENSP00000257555.4:p.Thr458Pro
ENST00000400024.6:c.1372A>C	ENSP00000476181.1:p.Thr458Pro
ENST00000402929.5:n.2238A>C
ENST00000535955.5:n.88A>C
ENST00000538626.2:n.236A>C
ENST00000538646.5:c.*348A>C	ENSP00000443964.1:n.*348A>C
ENST00000540108.1:c.*812A>C	ENSP00000445445.1:n.*812A>C
ENST00000541395.5:c.1372A>C	ENSP00000443112.1:p.Thr458Pro
ENST00000541924.5:c.*386A>C	ENSP00000440361.1:n.*386A>C
ENST00000543255.1:n.416A>C
ENST00000543427.5:c.835A>C	ENSP00000439721.2:p.Thr279Pro
ENST00000544413.2:c.1372A>C	ENSP00000438804.1:p.Thr458Pro
ENST00000544574.5:c.*135A>C	ENSP00000438565.1:n.*135A>C
ENST00000560968.5:c.1189A>C
ENST00000615446.4:c.160A>C	ENSP00000483994.1:p.Thr54Pro
ENST00000617366.4:c.587-98A>C	ENSP00000481967.1:n.587-98A>C
NM_000545.5:c.1372A>C , LRG_522t1:c.1372A>C	NP_000536.5:p.Thr458Pro
NM_000545.6:c.1372A>C	NP_000536.5:p.Thr458Pro
NM_001306179.1:c.1372A>C	NP_001293108.1:p.Thr458Pro
XM_005253931.2:c.1372A>C	XP_005253988.1:p.Thr458Pro
XM_024449168.1:c.1372A>C	XP_024304936.1:p.Thr458Pro
NM_000545.8:c.1372A>C MANE Select	NP_000536.6:p.Thr458Pro
NM_001306179.2:c.1372A>C	NP_001293108.2:p.Thr458Pro