Canonical Allele Identifier: CA684423579

Gene: HNF1A

Linked Data

• dbSNP Id: rs773990071
• gnomAD v3: 12-120996232-G-A
• gnomAD v4: 12-120996232-G-A
• MyVariant Identifiers: chr12:g.121434035G>A (hg19) ; chr12:g.120996232G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996232G>A , CM000674.2:g.120996232G>A	GRCh38
NC_000012.11:g.121434035G>A , CM000674.1:g.121434035G>A	GRCh37
NC_000012.10:g.119918418G>A	NCBI36
NG_011731.2:g.22487G>A , LRG_522:g.22487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-151G>A	ENSP00000453965.2:n.751-151G>A
ENST00000257555.11:c.956-30G>A MANE Select	ENSP00000257555.5:n.956-30G>A
ENST00000257555.10:c.956-30G>A	ENSP00000257555.4:n.956-30G>A
ENST00000400024.6:c.956-30G>A	ENSP00000476181.1:n.956-30G>A
ENST00000402929.5:n.1091-30G>A
ENST00000535955.5:n.43-1259G>A
ENST00000538626.2:n.191-1259G>A
ENST00000538646.5:c.769-30G>A	ENSP00000443964.1:n.769-30G>A
ENST00000540108.1:c.*396-30G>A	ENSP00000445445.1:n.*396-30G>A
ENST00000541395.5:c.956-30G>A	ENSP00000443112.1:n.956-30G>A
ENST00000541924.5:c.714-30G>A	ENSP00000440361.1:n.714-30G>A
ENST00000543427.5:c.634-372G>A	ENSP00000439721.2:n.634-372G>A
ENST00000544413.2:c.956-30G>A	ENSP00000438804.1:n.956-30G>A
ENST00000544574.5:c.73-385G>A	ENSP00000438565.1:n.73-385G>A
ENST00000560968.5:c.894-151G>A
ENST00000615446.4:c.-257-30G>A	ENSP00000483994.1:n.-257-30G>A
ENST00000617366.4:c.587-1402G>A	ENSP00000481967.1:n.587-1402G>A
NM_000545.5:c.956-30G>A , LRG_522t1:c.956-30G>A	NP_000536.5:n.956-30G>A
NM_000545.6:c.956-30G>A	NP_000536.5:n.956-30G>A
NM_001306179.1:c.956-30G>A	NP_001293108.1:n.956-30G>A
XM_005253931.2:c.956-30G>A	XP_005253988.1:n.956-30G>A
XM_024449168.1:c.956-30G>A	XP_024304936.1:n.956-30G>A
NM_000545.8:c.956-30G>A MANE Select	NP_000536.6:n.956-30G>A
NM_001306179.2:c.956-30G>A	NP_001293108.2:n.956-30G>A