Canonical Allele Identifier: CA005402

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 200844
• ClinVar RCV Id: RCV000182180 ; RCV002453655 ; RCV002516853
• dbSNP Id: rs368507376
• ExAC: 11:2608813 G / A
• gnomAD v2: 11-2608813-G-A
• gnomAD v3: 11-2587583-G-A
• gnomAD v4: 11-2587583-G-A
• MyVariant Identifiers: chr11:g.2608813G>A (hg19) ; chr11:g.2587583G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587583G>A , CM000673.2:g.2587583G>A	GRCh38
NC_000011.9:g.2608813G>A , CM000673.1:g.2608813G>A	GRCh37
NC_000011.8:g.2565389G>A	NCBI36
NG_008935.1:g.147593G>A , LRG_287:g.147593G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.785G>A	ENSP00000434560.2:p.Cys262Tyr
ENST00000646564.2:c.602G>A	ENSP00000495806.2:p.Cys201Tyr
ENST00000155840.12:c.1142G>A MANE Select	ENSP00000155840.2:p.Cys381Tyr
ENST00000335475.6:c.761G>A	ENSP00000334497.5:p.Cys254Tyr
ENST00000646564.1:c.248G>A	ENSP00000495806.1:p.Cys83Tyr
ENST00000155840.9:c.1142G>A	ENSP00000155840.2:p.Cys381Tyr
ENST00000335475.5:c.761G>A	ENSP00000334497.5:p.Cys254Tyr
NM_000218.2:c.1142G>A , LRG_287t1:c.1142G>A	NP_000209.2:p.Cys381Tyr
NM_181798.1:c.761G>A , LRG_287t2:c.761G>A	NP_861463.1:p.Cys254Tyr
NM_000218.3:c.1142G>A MANE Select	NP_000209.2:p.Cys381Tyr