Canonical Allele Identifier: CA10588543

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 265436
• ClinVar RCV Id: RCV000255526 ; RCV001248918 ; RCV002222028
• dbSNP Id: rs886039544
• gnomAD v2: 12-121432032-C-T
• gnomAD v4: 12-120994229-C-T
• COSMIC: COSM24923
• MyVariant Identifiers: chr12:g.121432032C>T (hg19) ; chr12:g.120994229C>T (hg38)
• ERepo: CA10588543/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120994229C>T , CM000674.2:g.120994229C>T	GRCh38
NC_000012.11:g.121432032C>T , CM000674.1:g.121432032C>T	GRCh37
NC_000012.10:g.119916415C>T	NCBI36
NG_011731.2:g.20484C>T , LRG_522:g.20484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.750+29C>T	ENSP00000453965.2:n.750+29C>T
ENST00000257555.11:c.779C>T MANE Select	ENSP00000257555.5:p.Thr260Met
ENST00000257555.10:c.779C>T	ENSP00000257555.4:p.Thr260Met
ENST00000400024.6:c.779C>T	ENSP00000476181.1:p.Thr260Met
ENST00000402929.5:n.914C>T
ENST00000535955.5:n.43-3262C>T
ENST00000538626.2:n.191-3262C>T
ENST00000538646.5:c.592C>T	ENSP00000443964.1:p.Arg198Trp
ENST00000540108.1:c.*219C>T	ENSP00000445445.1:n.*219C>T
ENST00000541395.5:c.779C>T	ENSP00000443112.1:p.Thr260Met
ENST00000541924.5:c.713+523C>T	ENSP00000440361.1:n.713+523C>T
ENST00000543427.5:c.633+603C>T	ENSP00000439721.2:n.633+603C>T
ENST00000544413.2:c.779C>T	ENSP00000438804.1:p.Thr260Met
ENST00000544574.5:c.73-2388C>T	ENSP00000438565.1:n.73-2388C>T
ENST00000560968.5:c.893+29C>T
ENST00000615446.4:c.-257-2033C>T	ENSP00000483994.1:n.-257-2033C>T
ENST00000617366.4:c.586+650C>T	ENSP00000481967.1:n.586+650C>T
NM_000545.5:c.779C>T , LRG_522t1:c.779C>T	NP_000536.5:p.Thr260Met
NM_000545.6:c.779C>T	NP_000536.5:p.Thr260Met
NM_001306179.1:c.779C>T	NP_001293108.1:p.Thr260Met
XM_005253931.2:c.779C>T	XP_005253988.1:p.Thr260Met
XM_024449168.1:c.779C>T	XP_024304936.1:p.Thr260Met
NM_000545.8:c.779C>T MANE Select	NP_000536.6:p.Thr260Met
NM_001306179.2:c.779C>T	NP_001293108.2:p.Thr260Met