Canonical Allele Identifier: CA386970117

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 523856
• ClinVar RCV Id: RCV000627329 ; RCV002319540
• dbSNP Id: rs1555212363
• COSMIC: COSM3667107
• MyVariant Identifiers: chr12:g.121435345C>T (hg19) ; chr12:g.120997542C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997542C>T , CM000674.2:g.120997542C>T	GRCh38
NC_000012.11:g.121435345C>T , CM000674.1:g.121435345C>T	GRCh37
NC_000012.10:g.119919728C>T	NCBI36
NG_011731.2:g.23797C>T , LRG_522:g.23797C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*125C>T	ENSP00000453965.2:n.*125C>T
ENST00000257555.11:c.1378C>T MANE Select	ENSP00000257555.5:p.Gln460Ter
ENST00000257555.10:c.1378C>T	ENSP00000257555.4:p.Gln460Ter
ENST00000400024.6:c.1378C>T	ENSP00000476181.1:p.Gln460Ter
ENST00000402929.5:n.2244C>T
ENST00000535955.5:n.94C>T
ENST00000538626.2:n.242C>T
ENST00000538646.5:c.*354C>T	ENSP00000443964.1:n.*354C>T
ENST00000540108.1:c.*818C>T	ENSP00000445445.1:n.*818C>T
ENST00000541395.5:c.1378C>T	ENSP00000443112.1:p.Gln460Ter
ENST00000541924.5:c.*392C>T	ENSP00000440361.1:n.*392C>T
ENST00000543255.1:n.422C>T
ENST00000543427.5:c.841C>T	ENSP00000439721.2:p.Gln281Ter
ENST00000544413.2:c.1378C>T	ENSP00000438804.1:p.Gln460Ter
ENST00000544574.5:c.*141C>T	ENSP00000438565.1:n.*141C>T
ENST00000560968.5:c.1195C>T
ENST00000615446.4:c.166C>T	ENSP00000483994.1:p.Gln56Ter
ENST00000617366.4:c.587-92C>T	ENSP00000481967.1:n.587-92C>T
NM_000545.5:c.1378C>T , LRG_522t1:c.1378C>T	NP_000536.5:p.Gln460Ter
NM_000545.6:c.1378C>T	NP_000536.5:p.Gln460Ter
NM_001306179.1:c.1378C>T	NP_001293108.1:p.Gln460Ter
XM_005253931.2:c.1378C>T	XP_005253988.1:p.Gln460Ter
XM_024449168.1:c.1378C>T	XP_024304936.1:p.Gln460Ter
NM_000545.8:c.1378C>T MANE Select	NP_000536.6:p.Gln460Ter
NM_001306179.2:c.1378C>T	NP_001293108.2:p.Gln460Ter