Canonical Allele Identifier: CA379115571

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2465917T>G (hg19) ; chr11:g.2444687T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444687T>G , CM000673.2:g.2444687T>G	GRCh38
NC_000011.9:g.2465917T>G , CM000673.1:g.2465917T>G	GRCh37
NC_000011.8:g.2422493T>G	NCBI36
NG_008935.1:g.4697T>G , LRG_287:g.4697T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.2T>G	ENSP00000434560.2:p.Met1Arg
ENST00000496887.6:c.2T>G	ENSP00000434560.1:p.Met1Arg