Canonical Allele Identifier: CA386970130

Gene: HNF1A

Linked Data

• dbSNP Id: rs762446965
• MyVariant Identifiers: chr12:g.121435351G>C (hg19) ; chr12:g.120997548G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997548G>C , CM000674.2:g.120997548G>C	GRCh38
NC_000012.11:g.121435351G>C , CM000674.1:g.121435351G>C	GRCh37
NC_000012.10:g.119919734G>C	NCBI36
NG_011731.2:g.23803G>C , LRG_522:g.23803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*131G>C	ENSP00000453965.2:n.*131G>C
ENST00000257555.11:c.1384G>C MANE Select	ENSP00000257555.5:p.Val462Leu
ENST00000257555.10:c.1384G>C	ENSP00000257555.4:p.Val462Leu
ENST00000400024.6:c.1384G>C	ENSP00000476181.1:p.Val462Leu
ENST00000402929.5:n.2250G>C
ENST00000535955.5:n.100G>C
ENST00000538626.2:n.248G>C
ENST00000538646.5:c.*360G>C	ENSP00000443964.1:n.*360G>C
ENST00000540108.1:c.*824G>C	ENSP00000445445.1:n.*824G>C
ENST00000541395.5:c.1384G>C	ENSP00000443112.1:p.Val462Leu
ENST00000541924.5:c.*398G>C	ENSP00000440361.1:n.*398G>C
ENST00000543255.1:n.428G>C
ENST00000543427.5:c.847G>C	ENSP00000439721.2:p.Val283Leu
ENST00000544413.2:c.1384G>C	ENSP00000438804.1:p.Val462Leu
ENST00000544574.5:c.*147G>C	ENSP00000438565.1:n.*147G>C
ENST00000560968.5:c.1201G>C
ENST00000615446.4:c.172G>C	ENSP00000483994.1:p.Val58Leu
ENST00000617366.4:c.587-86G>C	ENSP00000481967.1:n.587-86G>C
NM_000545.5:c.1384G>C , LRG_522t1:c.1384G>C	NP_000536.5:p.Val462Leu
NM_000545.6:c.1384G>C	NP_000536.5:p.Val462Leu
NM_001306179.1:c.1384G>C	NP_001293108.1:p.Val462Leu
XM_005253931.2:c.1384G>C	XP_005253988.1:p.Val462Leu
XM_024449168.1:c.1384G>C	XP_024304936.1:p.Val462Leu
NM_000545.8:c.1384G>C MANE Select	NP_000536.6:p.Val462Leu
NM_001306179.2:c.1384G>C	NP_001293108.2:p.Val462Leu