Canonical Allele Identifier: CA386960768

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 2662839
• ClinVar RCV Id: RCV003441504
• gnomAD v4: 12-120989024-T-C
• MyVariant Identifiers: chr12:g.121426827T>C (hg19) ; chr12:g.120989024T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120989024T>C , CM000674.2:g.120989024T>C	GRCh38
NC_000012.11:g.121426827T>C , CM000674.1:g.121426827T>C	GRCh37
NC_000012.10:g.119911210T>C	NCBI36
NG_011731.2:g.15279T>C , LRG_522:g.15279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.518T>C	ENSP00000453965.2:p.Val173Ala
ENST00000257555.11:c.518T>C MANE Select	ENSP00000257555.5:p.Val173Ala
ENST00000257555.10:c.518T>C	ENSP00000257555.4:p.Val173Ala
ENST00000400024.6:c.518T>C	ENSP00000476181.1:p.Val173Ala
ENST00000402929.5:n.653T>C
ENST00000535955.5:n.43-8467T>C
ENST00000538626.2:n.191-8467T>C
ENST00000538646.5:c.518T>C	ENSP00000443964.1:p.Val173Ala
ENST00000540108.1:c.327-4496T>C	ENSP00000445445.1:n.327-4496T>C
ENST00000541395.5:c.518T>C	ENSP00000443112.1:p.Val173Ala
ENST00000541924.5:c.518T>C	ENSP00000440361.1:p.Val173Ala
ENST00000543427.5:c.518T>C	ENSP00000439721.2:p.Val173Ala
ENST00000544413.2:c.518T>C	ENSP00000438804.1:p.Val173Ala
ENST00000544574.5:c.73-7593T>C	ENSP00000438565.1:n.73-7593T>C
ENST00000560968.5:c.661T>C
ENST00000615446.4:c.-257-7238T>C	ENSP00000483994.1:n.-257-7238T>C
ENST00000617366.4:c.518T>C	ENSP00000481967.1:p.Val173Ala
NM_000545.5:c.518T>C , LRG_522t1:c.518T>C	NP_000536.5:p.Val173Ala
NM_000545.6:c.518T>C	NP_000536.5:p.Val173Ala
NM_001306179.1:c.518T>C	NP_001293108.1:p.Val173Ala
XM_005253931.2:c.518T>C	XP_005253988.1:p.Val173Ala
XM_024449168.1:c.518T>C	XP_024304936.1:p.Val173Ala
NM_000545.8:c.518T>C MANE Select	NP_000536.6:p.Val173Ala
NM_001306179.2:c.518T>C	NP_001293108.2:p.Val173Ala