Canonical Allele Identifier: CA379116761

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2445313-C-T
• MyVariant Identifiers: chr11:g.2466543C>T (hg19) ; chr11:g.2445313C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2445313C>T , CM000673.2:g.2445313C>T	GRCh38
NC_000011.9:g.2466543C>T , CM000673.1:g.2466543C>T	GRCh37
NC_000011.8:g.2423119C>T	NCBI36
NG_008935.1:g.5323C>T , LRG_287:g.5323C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.24-70C>T	ENSP00000434560.2:n.24-70C>T
ENST00000646564.2:c.215C>T	ENSP00000495806.2:p.Ala72Val
ENST00000155840.12:c.215C>T MANE Select	ENSP00000155840.2:p.Ala72Val
ENST00000155840.9:c.215C>T	ENSP00000155840.2:p.Ala72Val
ENST00000496887.6:c.24-70C>T	ENSP00000434560.1:n.24-70C>T
NM_000218.2:c.215C>T , LRG_287t1:c.215C>T	NP_000209.2:p.Ala72Val
NM_000218.3:c.215C>T MANE Select	NP_000209.2:p.Ala72Val