Canonical Allele Identifier: CA386965854

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 2982876
• ClinVar RCV Id: RCV003845507
• dbSNP Id: rs2135841224
• MyVariant Identifiers: chr12:g.121431989G>A (hg19) ; chr12:g.120994186G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994186G>A , CM000674.2:g.120994186G>A	GRCh38
NC_000012.11:g.121431989G>A , CM000674.1:g.121431989G>A	GRCh37
NC_000012.10:g.119916372G>A	NCBI36
NG_011731.2:g.20441G>A , LRG_522:g.20441G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.736G>A	ENSP00000453965.2:p.Val246Met
ENST00000257555.11:c.736G>A MANE Select	ENSP00000257555.5:p.Val246Met
ENST00000257555.10:c.736G>A	ENSP00000257555.4:p.Val246Met
ENST00000400024.6:c.736G>A	ENSP00000476181.1:p.Val246Met
ENST00000402929.5:n.871G>A
ENST00000535955.5:n.43-3305G>A
ENST00000538626.2:n.191-3305G>A
ENST00000538646.5:c.549G>A	ENSP00000443964.1:p.Gly183=
ENST00000540108.1:c.*176G>A	ENSP00000445445.1:n.*176G>A
ENST00000541395.5:c.736G>A	ENSP00000443112.1:p.Val246Met
ENST00000541924.5:c.713+480G>A	ENSP00000440361.1:n.713+480G>A
ENST00000543427.5:c.633+560G>A	ENSP00000439721.2:n.633+560G>A
ENST00000544413.2:c.736G>A	ENSP00000438804.1:p.Val246Met
ENST00000544574.5:c.73-2431G>A	ENSP00000438565.1:n.73-2431G>A
ENST00000560968.5:c.879G>A
ENST00000615446.4:c.-257-2076G>A	ENSP00000483994.1:n.-257-2076G>A
ENST00000617366.4:c.586+607G>A	ENSP00000481967.1:n.586+607G>A
NM_000545.5:c.736G>A , LRG_522t1:c.736G>A	NP_000536.5:p.Val246Met
NM_000545.6:c.736G>A	NP_000536.5:p.Val246Met
NM_001306179.1:c.736G>A	NP_001293108.1:p.Val246Met
XM_005253931.2:c.736G>A	XP_005253988.1:p.Val246Met
XM_024449168.1:c.736G>A	XP_024304936.1:p.Val246Met
NM_000545.8:c.736G>A MANE Select	NP_000536.6:p.Val246Met
NM_001306179.2:c.736G>A	NP_001293108.2:p.Val246Met