Canonical Allele Identifier: CA379129879

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2591906T>A (hg19) ; chr11:g.2570676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570676T>A , CM000673.2:g.2570676T>A	GRCh38
NC_000011.9:g.2591906T>A , CM000673.1:g.2591906T>A	GRCh37
NC_000011.8:g.2548482T>A	NCBI36
NG_008935.1:g.130686T>A , LRG_287:g.130686T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.265T>A	ENSP00000434560.2:p.Trp89Arg
ENST00000646564.2:c.478-12759T>A	ENSP00000495806.2:n.478-12759T>A
ENST00000155840.12:c.526T>A MANE Select	ENSP00000155840.2:p.Trp176Arg
ENST00000335475.6:c.145T>A	ENSP00000334497.5:p.Trp49Arg
ENST00000646564.1:c.124-12759T>A	ENSP00000495806.1:n.124-12759T>A
ENST00000155840.9:c.526T>A	ENSP00000155840.2:p.Trp176Arg
ENST00000335475.5:c.145T>A	ENSP00000334497.5:p.Trp49Arg
ENST00000496887.6:c.265T>A	ENSP00000434560.1:p.Trp89Arg
NM_000218.2:c.526T>A , LRG_287t1:c.526T>A	NP_000209.2:p.Trp176Arg
NM_181798.1:c.145T>A , LRG_287t2:c.145T>A	NP_861463.1:p.Trp49Arg
NM_000218.3:c.526T>A MANE Select	NP_000209.2:p.Trp176Arg