Canonical Allele Identifier: CA6831649

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 447495
• ClinVar RCV Id: RCV000518027 ; RCV002329218
• dbSNP Id: rs370979090
• ExAC: 12:121416567 G / A
• gnomAD v2: 12-121416567-G-A
• gnomAD v3: 12-120978764-G-A
• gnomAD v4: 12-120978764-G-A
• MyVariant Identifiers: chr12:g.121416567G>A (hg19) ; chr12:g.120978764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978764G>A , CM000674.2:g.120978764G>A	GRCh38
NC_000012.11:g.121416567G>A , CM000674.1:g.121416567G>A	GRCh37
NC_000012.10:g.119900950G>A	NCBI36
NG_011731.2:g.5019G>A , LRG_522:g.5019G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.-5G>A	ENSP00000453965.2:n.-5G>A
ENST00000257555.11:c.-5G>A MANE Select	ENSP00000257555.5:n.-5G>A
ENST00000257555.10:c.-5G>A	ENSP00000257555.4:n.-5G>A
ENST00000400024.6:c.-5G>A	ENSP00000476181.1:n.-5G>A
ENST00000402929.5:n.131G>A
ENST00000535955.5:n.42+72G>A
ENST00000538626.2:n.114G>A
ENST00000538646.5:c.-5G>A	ENSP00000443964.1:n.-5G>A
ENST00000540108.1:c.-5G>A	ENSP00000445445.1:n.-5G>A
ENST00000541395.5:c.-5G>A	ENSP00000443112.1:n.-5G>A
ENST00000541924.5:c.-5G>A	ENSP00000440361.1:n.-5G>A
ENST00000543427.5:c.-5G>A	ENSP00000439721.2:n.-5G>A
ENST00000544413.2:c.-5G>A	ENSP00000438804.1:n.-5G>A
ENST00000544574.5:c.-5G>A	ENSP00000438565.1:n.-5G>A
ENST00000560968.5:c.139G>A
ENST00000615446.4:c.-258+53G>A	ENSP00000483994.1:n.-258+53G>A
ENST00000617366.4:c.-5G>A	ENSP00000481967.1:n.-5G>A
NM_000545.5:c.-5G>A , LRG_522t1:c.-5G>A	NP_000536.5:n.-5G>A
NM_000545.6:c.-5G>A	NP_000536.5:n.-5G>A
NM_001306179.1:c.-5G>A	NP_001293108.1:n.-5G>A
XM_005253931.2:c.-5G>A	XP_005253988.1:n.-5G>A
XM_024449168.1:c.-5G>A	XP_024304936.1:n.-5G>A
NM_000545.8:c.-5G>A MANE Select	NP_000536.6:n.-5G>A
NM_001306179.2:c.-5G>A	NP_001293108.2:n.-5G>A