Canonical Allele Identifier: CA379115616

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2465931C>G (hg19) ; chr11:g.2444701C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444701C>G , CM000673.2:g.2444701C>G	GRCh38
NC_000011.9:g.2465931C>G , CM000673.1:g.2465931C>G	GRCh37
NC_000011.8:g.2422507C>G	NCBI36
NG_008935.1:g.4711C>G , LRG_287:g.4711C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.16C>G	ENSP00000434560.2:p.Leu6Val
ENST00000496887.6:c.16C>G	ENSP00000434560.1:p.Leu6Val