Canonical Allele Identifier: CA386970095

Gene: HNF1A

Linked Data

• dbSNP Id: rs2135847576
• gnomAD v4: 12-120997530-C-G
• MyVariant Identifiers: chr12:g.121435333C>G (hg19) ; chr12:g.120997530C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997530C>G , CM000674.2:g.120997530C>G	GRCh38
NC_000012.11:g.121435333C>G , CM000674.1:g.121435333C>G	GRCh37
NC_000012.10:g.119919716C>G	NCBI36
NG_011731.2:g.23785C>G , LRG_522:g.23785C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*113C>G	ENSP00000453965.2:n.*113C>G
ENST00000257555.11:c.1366C>G MANE Select	ENSP00000257555.5:p.Leu456Val
ENST00000257555.10:c.1366C>G	ENSP00000257555.4:p.Leu456Val
ENST00000400024.6:c.1366C>G	ENSP00000476181.1:p.Leu456Val
ENST00000402929.5:n.2232C>G
ENST00000535955.5:n.82C>G
ENST00000538626.2:n.230C>G
ENST00000538646.5:c.*342C>G	ENSP00000443964.1:n.*342C>G
ENST00000540108.1:c.*806C>G	ENSP00000445445.1:n.*806C>G
ENST00000541395.5:c.1366C>G	ENSP00000443112.1:p.Leu456Val
ENST00000541924.5:c.*380C>G	ENSP00000440361.1:n.*380C>G
ENST00000543255.1:n.410C>G
ENST00000543427.5:c.829C>G	ENSP00000439721.2:p.Leu277Val
ENST00000544413.2:c.1366C>G	ENSP00000438804.1:p.Leu456Val
ENST00000544574.5:c.*129C>G	ENSP00000438565.1:n.*129C>G
ENST00000560968.5:c.1183C>G
ENST00000615446.4:c.154C>G	ENSP00000483994.1:p.Leu52Val
ENST00000617366.4:c.587-104C>G	ENSP00000481967.1:n.587-104C>G
NM_000545.5:c.1366C>G , LRG_522t1:c.1366C>G	NP_000536.5:p.Leu456Val
NM_000545.6:c.1366C>G	NP_000536.5:p.Leu456Val
NM_001306179.1:c.1366C>G	NP_001293108.1:p.Leu456Val
XM_005253931.2:c.1366C>G	XP_005253988.1:p.Leu456Val
XM_024449168.1:c.1366C>G	XP_024304936.1:p.Leu456Val
NM_000545.8:c.1366C>G MANE Select	NP_000536.6:p.Leu456Val
NM_001306179.2:c.1366C>G	NP_001293108.2:p.Leu456Val