Canonical Allele Identifier: CA005949

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3132
• ClinVar RCV Id: RCV000003280 ; RCV000057600 ; RCV000182202 ; RCV000622131 ; RCV001851605
• dbSNP Id: rs120074188
• ExAC: 11:2790132 G / A
• gnomAD v2: 11-2790132-G-A
• gnomAD v4: 11-2768902-G-A
• MyVariant Identifiers: chr11:g.2790132G>A (hg19) ; chr11:g.2768902G>A (hg38)
• PubMed: PMID:10482963 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653 ; PMID:22949429 ; PMID:24912595

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2768902G>A , CM000673.2:g.2768902G>A	GRCh38
NC_000011.9:g.2790132G>A , CM000673.1:g.2790132G>A	GRCh37
NC_000011.8:g.2746708G>A	NCBI36
NG_008935.1:g.328912G>A , LRG_287:g.328912G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1216G>A	ENSP00000434560.2:p.Ala406Thr
ENST00000646564.2:c.1033G>A	ENSP00000495806.2:p.Ala345Thr
ENST00000155840.12:c.1573G>A MANE Select	ENSP00000155840.2:p.Ala525Thr
ENST00000335475.6:c.1192G>A	ENSP00000334497.5:p.Ala398Thr
ENST00000646564.1:c.679G>A	ENSP00000495806.1:p.Ala227Thr
ENST00000155840.9:c.1573G>A	ENSP00000155840.2:p.Ala525Thr
ENST00000335475.5:c.1192G>A	ENSP00000334497.5:p.Ala398Thr
NM_000218.2:c.1573G>A , LRG_287t1:c.1573G>A	NP_000209.2:p.Ala525Thr
NM_181798.1:c.1192G>A , LRG_287t2:c.1192G>A	NP_861463.1:p.Ala398Thr
NM_000218.3:c.1573G>A MANE Select	NP_000209.2:p.Ala525Thr