Canonical Allele Identifier: CA379129857

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1034572
• ClinVar RCV Id: RCV001337314 ; RCV002341687
• dbSNP Id: rs1848317948
• MyVariant Identifiers: chr11:g.2591891T>C (hg19) ; chr11:g.2570661T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570661T>C , CM000673.2:g.2570661T>C	GRCh38
NC_000011.9:g.2591891T>C , CM000673.1:g.2591891T>C	GRCh37
NC_000011.8:g.2548467T>C	NCBI36
NG_008935.1:g.130671T>C , LRG_287:g.130671T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.250T>C	ENSP00000434560.2:p.Tyr84His
ENST00000646564.2:c.478-12774T>C	ENSP00000495806.2:n.478-12774T>C
ENST00000155840.12:c.511T>C MANE Select	ENSP00000155840.2:p.Tyr171His
ENST00000335475.6:c.130T>C	ENSP00000334497.5:p.Tyr44His
ENST00000646564.1:c.124-12774T>C	ENSP00000495806.1:n.124-12774T>C
ENST00000155840.9:c.511T>C	ENSP00000155840.2:p.Tyr171His
ENST00000335475.5:c.130T>C	ENSP00000334497.5:p.Tyr44His
ENST00000496887.6:c.250T>C	ENSP00000434560.1:p.Tyr84His
NM_000218.2:c.511T>C , LRG_287t1:c.511T>C	NP_000209.2:p.Tyr171His
NM_181798.1:c.130T>C , LRG_287t2:c.130T>C	NP_861463.1:p.Tyr44His
NM_000218.3:c.511T>C MANE Select	NP_000209.2:p.Tyr171His