Canonical Allele Identifier: CA008278

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3144
• ClinVar RCV Id: RCV000003294 ; RCV000057765 ; RCV000182118 ; RCV000477568 ; RCV000762834 ; RCV001002562 ; RCV002408447
• dbSNP Id: rs120074193
• ExAC: 11:2594100 G / A
• gnomAD v2: 11-2594100-G-A
• gnomAD v3: 11-2572870-G-A
• gnomAD v4: 11-2572870-G-A
• MyVariant Identifiers: chr11:g.2594100G>A (hg19) ; chr11:g.2572870G>A (hg38)
• PubMed: PMID:8487283 ; PMID:10560595 ; PMID:12205113 ; PMID:12702160 ; PMID:14678125 ; PMID:15234419 ; PMID:15466642 ; PMID:15840476 ; PMID:17470695 ; PMID:17905336 ; PMID:18752142 ; PMID:19716085 ; PMID:19808498 ; PMID:20044973 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572870G>A , CM000673.2:g.2572870G>A	GRCh38
NC_000011.9:g.2594100G>A , CM000673.1:g.2594100G>A	GRCh37
NC_000011.8:g.2550676G>A	NCBI36
NG_008935.1:g.132880G>A , LRG_287:g.132880G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.544G>A	ENSP00000434560.2:p.Gly182Ser
ENST00000646564.2:c.478-10565G>A	ENSP00000495806.2:n.478-10565G>A
ENST00000155840.12:c.805G>A MANE Select	ENSP00000155840.2:p.Gly269Ser
ENST00000335475.6:c.424G>A	ENSP00000334497.5:p.Gly142Ser
ENST00000646564.1:c.124-10565G>A	ENSP00000495806.1:n.124-10565G>A
ENST00000155840.9:c.805G>A	ENSP00000155840.2:p.Gly269Ser
ENST00000335475.5:c.424G>A	ENSP00000334497.5:p.Gly142Ser
ENST00000496887.6:c.544G>A	ENSP00000434560.1:p.Gly182Ser
NM_000218.2:c.805G>A , LRG_287t1:c.805G>A	NP_000209.2:p.Gly269Ser
NM_181798.1:c.424G>A , LRG_287t2:c.424G>A	NP_861463.1:p.Gly142Ser
NM_000218.3:c.805G>A MANE Select	NP_000209.2:p.Gly269Ser