Canonical Allele Identifier: CA379130984

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 950580
• ClinVar RCV Id: RCV001222321
• dbSNP Id: rs1060500628
• gnomAD v4: 11-2572062-G-A
• MyVariant Identifiers: chr11:g.2593292G>A (hg19) ; chr11:g.2572062G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572062G>A , CM000673.2:g.2572062G>A	GRCh38
NC_000011.9:g.2593292G>A , CM000673.1:g.2593292G>A	GRCh37
NC_000011.8:g.2549868G>A	NCBI36
NG_008935.1:g.132072G>A , LRG_287:g.132072G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.472G>A	ENSP00000434560.2:p.Gly158Arg
ENST00000646564.2:c.478-11373G>A	ENSP00000495806.2:n.478-11373G>A
ENST00000155840.12:c.733G>A MANE Select	ENSP00000155840.2:p.Gly245Arg
ENST00000335475.6:c.352G>A	ENSP00000334497.5:p.Gly118Arg
ENST00000646564.1:c.124-11373G>A	ENSP00000495806.1:n.124-11373G>A
ENST00000155840.9:c.733G>A	ENSP00000155840.2:p.Gly245Arg
ENST00000335475.5:c.352G>A	ENSP00000334497.5:p.Gly118Arg
ENST00000496887.6:c.472G>A	ENSP00000434560.1:p.Gly158Arg
NM_000218.2:c.733G>A , LRG_287t1:c.733G>A	NP_000209.2:p.Gly245Arg
NM_181798.1:c.352G>A , LRG_287t2:c.352G>A	NP_861463.1:p.Gly118Arg
NM_000218.3:c.733G>A MANE Select	NP_000209.2:p.Gly245Arg