Canonical Allele Identifier: CA379115637

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2465937A>T (hg19) ; chr11:g.2444707A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444707A>T , CM000673.2:g.2444707A>T	GRCh38
NC_000011.9:g.2465937A>T , CM000673.1:g.2465937A>T	GRCh37
NC_000011.8:g.2422513A>T	NCBI36
NG_008935.1:g.4717A>T , LRG_287:g.4717A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.22A>T	ENSP00000434560.2:p.Ser8Cys
ENST00000496887.6:c.22A>T	ENSP00000434560.1:p.Ser8Cys