Canonical Allele Identifier: CA6831650

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 447492
• ClinVar RCV Id: RCV000517679 ; RCV001111696 ; RCV002341209 ; RCV003316663 ; RCV003392347
• dbSNP Id: rs561269721
• ExAC: 12:121416568 A / G
• gnomAD v2: 12-121416568-A-G
• gnomAD v3: 12-120978765-A-G
• gnomAD v4: 12-120978765-A-G
• MyVariant Identifiers: chr12:g.121416568A>G (hg19) ; chr12:g.120978765A>G (hg38)
• PubMed: PMID:23348805

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978765A>G , CM000674.2:g.120978765A>G	GRCh38
NC_000012.11:g.121416568A>G , CM000674.1:g.121416568A>G	GRCh37
NC_000012.10:g.119900951A>G	NCBI36
NG_011731.2:g.5020A>G , LRG_522:g.5020A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.-4A>G	ENSP00000453965.2:n.-4A>G
ENST00000257555.11:c.-4A>G MANE Select	ENSP00000257555.5:n.-4A>G
ENST00000257555.10:c.-4A>G	ENSP00000257555.4:n.-4A>G
ENST00000400024.6:c.-4A>G	ENSP00000476181.1:n.-4A>G
ENST00000402929.5:n.132A>G
ENST00000535955.5:n.42+73A>G
ENST00000538626.2:n.115A>G
ENST00000538646.5:c.-4A>G	ENSP00000443964.1:n.-4A>G
ENST00000540108.1:c.-4A>G	ENSP00000445445.1:n.-4A>G
ENST00000541395.5:c.-4A>G	ENSP00000443112.1:n.-4A>G
ENST00000541924.5:c.-4A>G	ENSP00000440361.1:n.-4A>G
ENST00000543427.5:c.-4A>G	ENSP00000439721.2:n.-4A>G
ENST00000544413.2:c.-4A>G	ENSP00000438804.1:n.-4A>G
ENST00000544574.5:c.-4A>G	ENSP00000438565.1:n.-4A>G
ENST00000560968.5:c.140A>G
ENST00000615446.4:c.-258+54A>G	ENSP00000483994.1:n.-258+54A>G
ENST00000617366.4:c.-4A>G	ENSP00000481967.1:n.-4A>G
NM_000545.5:c.-4A>G , LRG_522t1:c.-4A>G	NP_000536.5:n.-4A>G
NM_000545.6:c.-4A>G	NP_000536.5:n.-4A>G
NM_001306179.1:c.-4A>G	NP_001293108.1:n.-4A>G
XM_005253931.2:c.-4A>G	XP_005253988.1:n.-4A>G
XM_024449168.1:c.-4A>G	XP_024304936.1:n.-4A>G
NM_000545.8:c.-4A>G MANE Select	NP_000536.6:n.-4A>G
NM_001306179.2:c.-4A>G	NP_001293108.2:n.-4A>G