Canonical Allele Identifier: CA007692
Gene: KCNQ1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 67091
dbSNP Id: rs199473442

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445103C>T , CM000673.2:g.2445103C>T GRCh38
NC_000011.9:g.2466333C>T , CM000673.1:g.2466333C>T GRCh37
NC_000011.8:g.2422909C>T NCBI36
NG_008935.1:g.5113C>T , LRG_287:g.5113C>T

Transcript Alleles

HGVS Amino-acid change
NM_000218.2:c.5C>T , LRG_287t1:c.5C>T NP_000209.2:p.Ala2Val
ENST00000155840.9:c.5C>T ENSP00000155840.2:p.Ala2Val
ENST00000496887.6:c.24-280C>T ENSP00000434560.1:p.=