Canonical Allele Identifier: CA386968142

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120996328-T-C
• MyVariant Identifiers: chr12:g.121434131T>C (hg19) ; chr12:g.120996328T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996328T>C , CM000674.2:g.120996328T>C	GRCh38
NC_000012.11:g.121434131T>C , CM000674.1:g.121434131T>C	GRCh37
NC_000012.10:g.119918514T>C	NCBI36
NG_011731.2:g.22583T>C , LRG_522:g.22583T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-55T>C	ENSP00000453965.2:n.751-55T>C
ENST00000257555.11:c.1022T>C MANE Select	ENSP00000257555.5:p.Leu341Ser
ENST00000257555.10:c.1022T>C	ENSP00000257555.4:p.Leu341Ser
ENST00000400024.6:c.1022T>C	ENSP00000476181.1:p.Leu341Ser
ENST00000402929.5:n.1157T>C
ENST00000535955.5:n.43-1163T>C
ENST00000538626.2:n.191-1163T>C
ENST00000538646.5:c.835T>C	ENSP00000443964.1:p.Ter279Gln
ENST00000540108.1:c.*462T>C	ENSP00000445445.1:n.*462T>C
ENST00000541395.5:c.1022T>C	ENSP00000443112.1:p.Leu341Ser
ENST00000541924.5:c.*36T>C	ENSP00000440361.1:n.*36T>C
ENST00000543427.5:c.634-276T>C	ENSP00000439721.2:n.634-276T>C
ENST00000544413.2:c.1022T>C	ENSP00000438804.1:p.Leu341Ser
ENST00000544574.5:c.73-289T>C	ENSP00000438565.1:n.73-289T>C
ENST00000560968.5:c.894-55T>C
ENST00000615446.4:c.-191T>C	ENSP00000483994.1:n.-191T>C
ENST00000617366.4:c.587-1306T>C	ENSP00000481967.1:n.587-1306T>C
NM_000545.5:c.1022T>C , LRG_522t1:c.1022T>C	NP_000536.5:p.Leu341Ser
NM_000545.6:c.1022T>C	NP_000536.5:p.Leu341Ser
NM_001306179.1:c.1022T>C	NP_001293108.1:p.Leu341Ser
XM_005253931.2:c.1022T>C	XP_005253988.1:p.Leu341Ser
XM_024449168.1:c.1022T>C	XP_024304936.1:p.Leu341Ser
NM_000545.8:c.1022T>C MANE Select	NP_000536.6:p.Leu341Ser
NM_001306179.2:c.1022T>C	NP_001293108.2:p.Leu341Ser