Canonical Allele Identifier: CA482164414

Gene: HNF1A

Linked Data

• gnomAD v4: 12-120996347-C-A
• MyVariant Identifiers: chr12:g.121434150C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120996347C>A , CM000674.2:g.120996347C>A	GRCh38
NC_000012.11:g.121434150C>A , CM000674.1:g.121434150C>A	GRCh37
NC_000012.10:g.119918533C>A	NCBI36
NG_011731.2:g.22602C>A , LRG_522:g.22602C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.751-36C>A	ENSP00000453965.2:n.751-36C>A
ENST00000257555.11:c.1041C>A MANE Select	ENSP00000257555.5:p.Pro347=
ENST00000257555.10:c.1041C>A	ENSP00000257555.4:p.Pro347=
ENST00000400024.6:c.1041C>A	ENSP00000476181.1:p.Pro347=
ENST00000402929.5:n.1176C>A
ENST00000535955.5:n.43-1144C>A
ENST00000538626.2:n.191-1144C>A
ENST00000538646.5:c.*17C>A	ENSP00000443964.1:n.*17C>A
ENST00000540108.1:c.*481C>A	ENSP00000445445.1:n.*481C>A
ENST00000541395.5:c.1041C>A	ENSP00000443112.1:p.Pro347=
ENST00000541924.5:c.*55C>A	ENSP00000440361.1:n.*55C>A
ENST00000543427.5:c.634-257C>A	ENSP00000439721.2:n.634-257C>A
ENST00000544413.2:c.1041C>A	ENSP00000438804.1:p.Pro347=
ENST00000544574.5:c.73-270C>A	ENSP00000438565.1:n.73-270C>A
ENST00000560968.5:c.894-36C>A
ENST00000615446.4:c.-172C>A	ENSP00000483994.1:n.-172C>A
ENST00000617366.4:c.587-1287C>A	ENSP00000481967.1:n.587-1287C>A
NM_000545.5:c.1041C>A , LRG_522t1:c.1041C>A	NP_000536.5:p.Pro347=
NM_000545.6:c.1041C>A	NP_000536.5:p.Pro347=
NM_001306179.1:c.1041C>A	NP_001293108.1:p.Pro347=
XM_005253931.2:c.1041C>A	XP_005253988.1:p.Pro347=
XM_024449168.1:c.1041C>A	XP_024304936.1:p.Pro347=
NM_000545.8:c.1041C>A MANE Select	NP_000536.6:p.Pro347=
NM_001306179.2:c.1041C>A	NP_001293108.2:p.Pro347=