Canonical Allele Identifier: CA214665

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 14932
• ClinVar RCV Id: RCV000016069 ; RCV000030492 ; RCV002514104
• dbSNP Id: rs137853239
• gnomAD v2: 12-121437409-C-G
• gnomAD v3: 12-120999606-C-G
• gnomAD v4: 12-120999606-C-G
• MyVariant Identifiers: chr12:g.121437409C>G (hg19) ; chr12:g.120999606C>G (hg38)
• PubMed: PMID:9313763

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120999606C>G , CM000674.2:g.120999606C>G	GRCh38
NC_000012.11:g.121437409C>G , CM000674.1:g.121437409C>G	GRCh37
NC_000012.10:g.119921792C>G	NCBI36
NG_011731.2:g.25861C>G , LRG_522:g.25861C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*494C>G	ENSP00000453965.2:n.*494C>G
ENST00000257555.11:c.1747C>G MANE Select	ENSP00000257555.5:p.Arg583Gly
ENST00000257555.10:c.1747C>G	ENSP00000257555.4:p.Arg583Gly
ENST00000540108.1:c.*1187C>G	ENSP00000445445.1:n.*1187C>G
ENST00000541395.5:c.1840C>G	ENSP00000443112.1:p.Arg614Gly
ENST00000543427.5:c.1210C>G	ENSP00000439721.2:p.Arg404Gly
ENST00000544413.2:c.1768C>G	ENSP00000438804.1:p.Arg590Gly
ENST00000560968.5:c.1564C>G
ENST00000615446.4:c.535C>G	ENSP00000483994.1:p.Arg179Gly
ENST00000617366.4:c.*156C>G	ENSP00000481967.1:n.*156C>G
NM_000545.5:c.1747C>G , LRG_522t1:c.1747C>G	NP_000536.5:p.Arg583Gly
NM_000545.6:c.1747C>G	NP_000536.5:p.Arg583Gly
NM_001306179.1:c.1768C>G	NP_001293108.1:p.Arg590Gly
XM_005253931.2:c.1840C>G	XP_005253988.1:p.Arg614Gly
XM_024449168.1:c.1840C>G	XP_024304936.1:p.Arg614Gly
NM_000545.8:c.1747C>G MANE Select	NP_000536.6:p.Arg583Gly
NM_001306179.2:c.1768C>G	NP_001293108.2:p.Arg590Gly