Canonical Allele Identifier: CA214336

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 36833
• ClinVar RCV Id: RCV000030514 ; RCV001248913 ; RCV003456361
• dbSNP Id: rs193922606
• ExAC: 12:121432125 C / G
• gnomAD v2: 12-121432125-C-G
• gnomAD v3: 12-120994322-C-G
• gnomAD v4: 12-120994322-C-G
• MyVariant Identifiers: chr12:g.121432125C>G (hg19) ; chr12:g.120994322C>G (hg38)
• ERepo: CA214336/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994322C>G , CM000674.2:g.120994322C>G	GRCh38
NC_000012.11:g.121432125C>G , CM000674.1:g.121432125C>G	GRCh37
NC_000012.10:g.119916508C>G	NCBI36
NG_011731.2:g.20577C>G , LRG_522:g.20577C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.750+122C>G	ENSP00000453965.2:n.750+122C>G
ENST00000257555.11:c.872C>G MANE Select	ENSP00000257555.5:p.Pro291Arg
ENST00000257555.10:c.872C>G	ENSP00000257555.4:p.Pro291Arg
ENST00000400024.6:c.872C>G	ENSP00000476181.1:p.Pro291Arg
ENST00000402929.5:n.1007C>G
ENST00000535955.5:n.43-3169C>G
ENST00000538626.2:n.191-3169C>G
ENST00000538646.5:c.685C>G	ENSP00000443964.1:p.Gln229Glu
ENST00000540108.1:c.*312C>G	ENSP00000445445.1:n.*312C>G
ENST00000541395.5:c.872C>G	ENSP00000443112.1:p.Pro291Arg
ENST00000541924.5:c.713+616C>G	ENSP00000440361.1:n.713+616C>G
ENST00000543427.5:c.633+696C>G	ENSP00000439721.2:n.633+696C>G
ENST00000544413.2:c.872C>G	ENSP00000438804.1:p.Pro291Arg
ENST00000544574.5:c.73-2295C>G	ENSP00000438565.1:n.73-2295C>G
ENST00000560968.5:c.893+122C>G
ENST00000615446.4:c.-257-1940C>G	ENSP00000483994.1:n.-257-1940C>G
ENST00000617366.4:c.586+743C>G	ENSP00000481967.1:n.586+743C>G
NM_000545.5:c.872C>G , LRG_522t1:c.872C>G	NP_000536.5:p.Pro291Arg
NM_000545.6:c.872C>G	NP_000536.5:p.Pro291Arg
NM_001306179.1:c.872C>G	NP_001293108.1:p.Pro291Arg
XM_005253931.2:c.872C>G	XP_005253988.1:p.Pro291Arg
XM_024449168.1:c.872C>G	XP_024304936.1:p.Pro291Arg
NM_000545.8:c.872C>G MANE Select	NP_000536.6:p.Pro291Arg
NM_001306179.2:c.872C>G	NP_001293108.2:p.Pro291Arg