Canonical Allele Identifier: CA472037742

Gene: KCNQ1

Linked Data

• gnomAD v4: 11-2570636-G-A
• MyVariant Identifiers: chr11:g.2591866G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570636G>A , CM000673.2:g.2570636G>A	GRCh38
NC_000011.9:g.2591866G>A , CM000673.1:g.2591866G>A	GRCh37
NC_000011.8:g.2548442G>A	NCBI36
NG_008935.1:g.130646G>A , LRG_287:g.130646G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.225G>A	ENSP00000434560.2:p.Val75=
ENST00000646564.2:c.478-12799G>A	ENSP00000495806.2:n.478-12799G>A
ENST00000155840.12:c.486G>A MANE Select	ENSP00000155840.2:p.Val162=
ENST00000335475.6:c.105G>A	ENSP00000334497.5:p.Val35=
ENST00000646564.1:c.124-12799G>A	ENSP00000495806.1:n.124-12799G>A
ENST00000155840.9:c.486G>A	ENSP00000155840.2:p.Val162=
ENST00000335475.5:c.105G>A	ENSP00000334497.5:p.Val35=
ENST00000496887.6:c.225G>A	ENSP00000434560.1:p.Val75=
NM_000218.2:c.486G>A , LRG_287t1:c.486G>A	NP_000209.2:p.Val162=
NM_181798.1:c.105G>A , LRG_287t2:c.105G>A	NP_861463.1:p.Val35=
NM_000218.3:c.486G>A MANE Select	NP_000209.2:p.Val162=