Canonical Allele Identifier: CA005293

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200811
• ClinVar RCV Id: RCV001842866 ; RCV002426876 ; RCV002492807
• dbSNP Id: rs1805118
• ExAC: 11:2606519 G / A
• gnomAD v2: 11-2606519-G-A
• gnomAD v3: 11-2585289-G-A
• gnomAD v4: 11-2585289-G-A
• MyVariant Identifiers: chr11:g.2606519G>A (hg19) ; chr11:g.2585289G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2585289G>A , CM000673.2:g.2585289G>A	GRCh38
NC_000011.9:g.2606519G>A , CM000673.1:g.2606519G>A	GRCh37
NC_000011.8:g.2563095G>A	NCBI36
NG_008935.1:g.145299G>A , LRG_287:g.145299G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.771+1744G>A	ENSP00000434560.2:n.771+1744G>A
ENST00000646564.2:c.588+1744G>A	ENSP00000495806.2:n.588+1744G>A
ENST00000155840.12:c.1110G>A MANE Select	ENSP00000155840.2:p.Ala370=
ENST00000335475.6:c.729G>A	ENSP00000334497.5:p.Ala243=
ENST00000646564.1:c.234+1744G>A	ENSP00000495806.1:n.234+1744G>A
ENST00000155840.9:c.1110G>A	ENSP00000155840.2:p.Ala370=
ENST00000335475.5:c.729G>A	ENSP00000334497.5:p.Ala243=
NM_000218.2:c.1110G>A , LRG_287t1:c.1110G>A	NP_000209.2:p.Ala370=
NM_181798.1:c.729G>A , LRG_287t2:c.729G>A	NP_861463.1:p.Ala243=
NM_000218.3:c.1110G>A MANE Select	NP_000209.2:p.Ala370=