Canonical Allele Identifier: CA379130914

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2593253T>A (hg19) ; chr11:g.2572023T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572023T>A , CM000673.2:g.2572023T>A	GRCh38
NC_000011.9:g.2593253T>A , CM000673.1:g.2593253T>A	GRCh37
NC_000011.8:g.2549829T>A	NCBI36
NG_008935.1:g.132033T>A , LRG_287:g.132033T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.433T>A	ENSP00000434560.2:p.Phe145Ile
ENST00000646564.2:c.478-11412T>A	ENSP00000495806.2:n.478-11412T>A
ENST00000155840.12:c.694T>A MANE Select	ENSP00000155840.2:p.Phe232Ile
ENST00000335475.6:c.313T>A	ENSP00000334497.5:p.Phe105Ile
ENST00000646564.1:c.124-11412T>A	ENSP00000495806.1:n.124-11412T>A
ENST00000155840.9:c.694T>A	ENSP00000155840.2:p.Phe232Ile
ENST00000335475.5:c.313T>A	ENSP00000334497.5:p.Phe105Ile
ENST00000496887.6:c.433T>A	ENSP00000434560.1:p.Phe145Ile
NM_000218.2:c.694T>A , LRG_287t1:c.694T>A	NP_000209.2:p.Phe232Ile
NM_181798.1:c.313T>A , LRG_287t2:c.313T>A	NP_861463.1:p.Phe105Ile
NM_000218.3:c.694T>A MANE Select	NP_000209.2:p.Phe232Ile