Canonical Allele Identifier: CA379115587

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2444692-C-T
• MyVariant Identifiers: chr11:g.2465922C>T (hg19) ; chr11:g.2444692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2444692C>T , CM000673.2:g.2444692C>T	GRCh38
NC_000011.9:g.2465922C>T , CM000673.1:g.2465922C>T	GRCh37
NC_000011.8:g.2422498C>T	NCBI36
NG_008935.1:g.4702C>T , LRG_287:g.4702C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.7C>T	ENSP00000434560.2:p.Arg3Ter
ENST00000496887.6:c.7C>T	ENSP00000434560.1:p.Arg3Ter