Canonical Allele Identifier: CA379115583

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2465920C>G (hg19) ; chr11:g.2444690C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444690C>G , CM000673.2:g.2444690C>G	GRCh38
NC_000011.9:g.2465920C>G , CM000673.1:g.2465920C>G	GRCh37
NC_000011.8:g.2422496C>G	NCBI36
NG_008935.1:g.4700C>G , LRG_287:g.4700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.5C>G	ENSP00000434560.2:p.Thr2Arg
ENST00000496887.6:c.5C>G	ENSP00000434560.1:p.Thr2Arg