Canonical Allele Identifier: CA379115627

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2465935G>A (hg19) ; chr11:g.2444705G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444705G>A , CM000673.2:g.2444705G>A	GRCh38
NC_000011.9:g.2465935G>A , CM000673.1:g.2465935G>A	GRCh37
NC_000011.8:g.2422511G>A	NCBI36
NG_008935.1:g.4715G>A , LRG_287:g.4715G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.20G>A	ENSP00000434560.2:p.Ser7Asn
ENST00000496887.6:c.20G>A	ENSP00000434560.1:p.Ser7Asn