Canonical Allele Identifier: CA386965862

Gene: HNF1A

Linked Data

• dbSNP Id: rs2135841238
• MyVariant Identifiers: chr12:g.121431990T>A (hg19) ; chr12:g.120994187T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994187T>A , CM000674.2:g.120994187T>A	GRCh38
NC_000012.11:g.121431990T>A , CM000674.1:g.121431990T>A	GRCh37
NC_000012.10:g.119916373T>A	NCBI36
NG_011731.2:g.20442T>A , LRG_522:g.20442T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.737T>A	ENSP00000453965.2:p.Val246Glu
ENST00000257555.11:c.737T>A MANE Select	ENSP00000257555.5:p.Val246Glu
ENST00000257555.10:c.737T>A	ENSP00000257555.4:p.Val246Glu
ENST00000400024.6:c.737T>A	ENSP00000476181.1:p.Val246Glu
ENST00000402929.5:n.872T>A
ENST00000535955.5:n.43-3304T>A
ENST00000538626.2:n.191-3304T>A
ENST00000538646.5:c.550T>A	ENSP00000443964.1:p.Cys184Ser
ENST00000540108.1:c.*177T>A	ENSP00000445445.1:n.*177T>A
ENST00000541395.5:c.737T>A	ENSP00000443112.1:p.Val246Glu
ENST00000541924.5:c.713+481T>A	ENSP00000440361.1:n.713+481T>A
ENST00000543427.5:c.633+561T>A	ENSP00000439721.2:n.633+561T>A
ENST00000544413.2:c.737T>A	ENSP00000438804.1:p.Val246Glu
ENST00000544574.5:c.73-2430T>A	ENSP00000438565.1:n.73-2430T>A
ENST00000560968.5:c.880T>A
ENST00000615446.4:c.-257-2075T>A	ENSP00000483994.1:n.-257-2075T>A
ENST00000617366.4:c.586+608T>A	ENSP00000481967.1:n.586+608T>A
NM_000545.5:c.737T>A , LRG_522t1:c.737T>A	NP_000536.5:p.Val246Glu
NM_000545.6:c.737T>A	NP_000536.5:p.Val246Glu
NM_001306179.1:c.737T>A	NP_001293108.1:p.Val246Glu
XM_005253931.2:c.737T>A	XP_005253988.1:p.Val246Glu
XM_024449168.1:c.737T>A	XP_024304936.1:p.Val246Glu
NM_000545.8:c.737T>A MANE Select	NP_000536.6:p.Val246Glu
NM_001306179.2:c.737T>A	NP_001293108.2:p.Val246Glu