Canonical Allele Identifier: CA379135147

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2610063G>A (hg19) ; chr11:g.2588833G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588833G>A , CM000673.2:g.2588833G>A	GRCh38
NC_000011.9:g.2610063G>A , CM000673.1:g.2610063G>A	GRCh37
NC_000011.8:g.2566639G>A	NCBI36
NG_008935.1:g.148843G>A , LRG_287:g.148843G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1015G>A	ENSP00000434560.2:p.Val339Ile
ENST00000646564.2:c.832G>A	ENSP00000495806.2:p.Val278Ile
ENST00000155840.12:c.1372G>A MANE Select	ENSP00000155840.2:p.Val458Ile
ENST00000335475.6:c.991G>A	ENSP00000334497.5:p.Val331Ile
ENST00000646564.1:c.478G>A	ENSP00000495806.1:p.Val160Ile
ENST00000155840.9:c.1372G>A	ENSP00000155840.2:p.Val458Ile
ENST00000335475.5:c.991G>A	ENSP00000334497.5:p.Val331Ile
NM_000218.2:c.1372G>A , LRG_287t1:c.1372G>A	NP_000209.2:p.Val458Ile
NM_181798.1:c.991G>A , LRG_287t2:c.991G>A	NP_861463.1:p.Val331Ile
NM_000218.3:c.1372G>A MANE Select	NP_000209.2:p.Val458Ile