Canonical Allele Identifier: CA379121234

Gene: KCNQ1

Linked Data

• MyVariant Identifiers: chr11:g.2549174G>A (hg19) ; chr11:g.2527944G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2527944G>A , CM000673.2:g.2527944G>A	GRCh38
NC_000011.9:g.2549174G>A , CM000673.1:g.2549174G>A	GRCh37
NC_000011.8:g.2505750G>A	NCBI36
NG_008935.1:g.87954G>A , LRG_287:g.87954G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380776.5:n.200G>A
ENST00000496887.7:c.142G>A	ENSP00000434560.2:p.Val48Ile
ENST00000646564.2:c.403G>A	ENSP00000495806.2:p.Val135Ile
ENST00000155840.12:c.403G>A MANE Select	ENSP00000155840.2:p.Val135Ile
ENST00000335475.6:c.22G>A	ENSP00000334497.5:p.Val8Ile
ENST00000646564.1:c.49G>A	ENSP00000495806.1:p.Val17Ile
ENST00000155840.9:c.403G>A	ENSP00000155840.2:p.Val135Ile
ENST00000335475.5:c.22G>A	ENSP00000334497.5:p.Val8Ile
ENST00000345015.4:n.272G>A
ENST00000380776.4:c.193G>A	ENSP00000370153.4:p.Val65Ile
ENST00000496887.6:c.142G>A	ENSP00000434560.1:p.Val48Ile
NM_000218.2:c.403G>A , LRG_287t1:c.403G>A	NP_000209.2:p.Val135Ile
NM_181798.1:c.22G>A , LRG_287t2:c.22G>A	NP_861463.1:p.Val8Ile
NM_000218.3:c.403G>A MANE Select	NP_000209.2:p.Val135Ile