Canonical Allele Identifier: CA379130023

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1404542
• ClinVar RCV Id: RCV001901696 ; RCV002359398
• dbSNP Id: rs2133727494
• gnomAD v4: 11-2570731-C-T
• MyVariant Identifiers: chr11:g.2591961C>T (hg19) ; chr11:g.2570731C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570731C>T , CM000673.2:g.2570731C>T	GRCh38
NC_000011.9:g.2591961C>T , CM000673.1:g.2591961C>T	GRCh37
NC_000011.8:g.2548537C>T	NCBI36
NG_008935.1:g.130741C>T , LRG_287:g.130741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.320C>T	ENSP00000434560.2:p.Ala107Val
ENST00000646564.2:c.478-12704C>T	ENSP00000495806.2:n.478-12704C>T
ENST00000155840.12:c.581C>T MANE Select	ENSP00000155840.2:p.Ala194Val
ENST00000335475.6:c.200C>T	ENSP00000334497.5:p.Ala67Val
ENST00000646564.1:c.124-12704C>T	ENSP00000495806.1:n.124-12704C>T
ENST00000155840.9:c.581C>T	ENSP00000155840.2:p.Ala194Val
ENST00000335475.5:c.200C>T	ENSP00000334497.5:p.Ala67Val
ENST00000496887.6:c.320C>T	ENSP00000434560.1:p.Ala107Val
NM_000218.2:c.581C>T , LRG_287t1:c.581C>T	NP_000209.2:p.Ala194Val
NM_181798.1:c.200C>T , LRG_287t2:c.200C>T	NP_861463.1:p.Ala67Val
NM_000218.3:c.581C>T MANE Select	NP_000209.2:p.Ala194Val