Canonical Allele Identifier: CA008615

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53124
• ClinVar RCV Id: RCV000046150 ; RCV000254708 ; RCV000619717 ; RCV000826193 ; RCV001841658 ; RCV002496704
• dbSNP Id: rs120074186
• ExAC: 11:2594209 G / A
• gnomAD v2: 11-2594209-G-A
• gnomAD v3: 11-2572979-G-A
• gnomAD v4: 11-2572979-G-A
• MyVariant Identifiers: chr11:g.2594209G>A (hg19) ; chr11:g.2572979G>A (hg38)
• PubMed: PMID:12702160 ; PMID:19716085 ; PMID:19841298 ; PMID:23124029

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572979G>A , CM000673.2:g.2572979G>A	GRCh38
NC_000011.9:g.2594209G>A , CM000673.1:g.2594209G>A	GRCh37
NC_000011.8:g.2550785G>A	NCBI36
NG_008935.1:g.132989G>A , LRG_287:g.132989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.653G>A	ENSP00000434560.2:p.Trp218Ter
ENST00000646564.2:c.478-10456G>A	ENSP00000495806.2:n.478-10456G>A
ENST00000155840.12:c.914G>A MANE Select	ENSP00000155840.2:p.Trp305Ter
ENST00000335475.6:c.533G>A	ENSP00000334497.5:p.Trp178Ter
ENST00000646564.1:c.124-10456G>A	ENSP00000495806.1:n.124-10456G>A
ENST00000155840.9:c.914G>A	ENSP00000155840.2:p.Trp305Ter
ENST00000335475.5:c.533G>A	ENSP00000334497.5:p.Trp178Ter
NM_000218.2:c.914G>A , LRG_287t1:c.914G>A	NP_000209.2:p.Trp305Ter
NM_181798.1:c.533G>A , LRG_287t2:c.533G>A	NP_861463.1:p.Trp178Ter
NM_000218.3:c.914G>A MANE Select	NP_000209.2:p.Trp305Ter