Canonical Allele Identifier: CA379115636

Gene: KCNQ1

Linked Data

• gnomAD v3: 11-2444707-A-C
• gnomAD v4: 11-2444707-A-C
• MyVariant Identifiers: chr11:g.2465937A>C (hg19) ; chr11:g.2444707A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.22A>C	ENSP00000434560.2:p.Ser8Arg
ENST00000496887.6:c.22A>C	ENSP00000434560.1:p.Ser8Arg