Canonical Allele Identifier: CA386970116

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120997542-C-A
• COSMIC: COSM5613502
• MyVariant Identifiers: chr12:g.121435345C>A (hg19) ; chr12:g.120997542C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997542C>A , CM000674.2:g.120997542C>A	GRCh38
NC_000012.11:g.121435345C>A , CM000674.1:g.121435345C>A	GRCh37
NC_000012.10:g.119919728C>A	NCBI36
NG_011731.2:g.23797C>A , LRG_522:g.23797C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*125C>A	ENSP00000453965.2:n.*125C>A
ENST00000257555.11:c.1378C>A MANE Select	ENSP00000257555.5:p.Gln460Lys
ENST00000257555.10:c.1378C>A	ENSP00000257555.4:p.Gln460Lys
ENST00000400024.6:c.1378C>A	ENSP00000476181.1:p.Gln460Lys
ENST00000402929.5:n.2244C>A
ENST00000535955.5:n.94C>A
ENST00000538626.2:n.242C>A
ENST00000538646.5:c.*354C>A	ENSP00000443964.1:n.*354C>A
ENST00000540108.1:c.*818C>A	ENSP00000445445.1:n.*818C>A
ENST00000541395.5:c.1378C>A	ENSP00000443112.1:p.Gln460Lys
ENST00000541924.5:c.*392C>A	ENSP00000440361.1:n.*392C>A
ENST00000543255.1:n.422C>A
ENST00000543427.5:c.841C>A	ENSP00000439721.2:p.Gln281Lys
ENST00000544413.2:c.1378C>A	ENSP00000438804.1:p.Gln460Lys
ENST00000544574.5:c.*141C>A	ENSP00000438565.1:n.*141C>A
ENST00000560968.5:c.1195C>A
ENST00000615446.4:c.166C>A	ENSP00000483994.1:p.Gln56Lys
ENST00000617366.4:c.587-92C>A	ENSP00000481967.1:n.587-92C>A
NM_000545.5:c.1378C>A , LRG_522t1:c.1378C>A	NP_000536.5:p.Gln460Lys
NM_000545.6:c.1378C>A	NP_000536.5:p.Gln460Lys
NM_001306179.1:c.1378C>A	NP_001293108.1:p.Gln460Lys
XM_005253931.2:c.1378C>A	XP_005253988.1:p.Gln460Lys
XM_024449168.1:c.1378C>A	XP_024304936.1:p.Gln460Lys
NM_000545.8:c.1378C>A MANE Select	NP_000536.6:p.Gln460Lys
NM_001306179.2:c.1378C>A	NP_001293108.2:p.Gln460Lys