Canonical Allele Identifier: CA006354

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53015
• ClinVar RCV Id: RCV000057634 ; RCV000182224 ; RCV000223805 ; RCV001852971 ; RCV001027732 ; RCV001841637
• dbSNP Id: rs199472813
• gnomAD v2: 11-2799241-G-A
• gnomAD v3: 11-2778011-G-A
• gnomAD v4: 11-2778011-G-A
• MyVariant Identifiers: chr11:g.2799241G>A (hg19) ; chr11:g.2778011G>A (hg38)
• PubMed: PMID:14998624 ; PMID:15840476 ; PMID:16623272 ; PMID:17329207 ; PMID:17329209 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2778011G>A , CM000673.2:g.2778011G>A	GRCh38
NC_000011.9:g.2799241G>A , CM000673.1:g.2799241G>A	GRCh37
NC_000011.8:g.2755817G>A	NCBI36
NG_008935.1:g.338021G>A , LRG_287:g.338021G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1411G>A	ENSP00000434560.2:p.Ala471Thr
ENST00000646564.2:c.1228G>A	ENSP00000495806.2:p.Ala410Thr
ENST00000155840.12:c.1768G>A MANE Select	ENSP00000155840.2:p.Ala590Thr
ENST00000335475.6:c.1387G>A	ENSP00000334497.5:p.Ala463Thr
ENST00000526095.2:c.172G>A	ENSP00000494939.1:p.Ala58Thr
ENST00000646564.1:c.874G>A	ENSP00000495806.1:p.Ala292Thr
ENST00000155840.9:c.1768G>A	ENSP00000155840.2:p.Ala590Thr
ENST00000335475.5:c.1387G>A	ENSP00000334497.5:p.Ala463Thr
ENST00000526095.1:n.275G>A
NM_000218.2:c.1768G>A , LRG_287t1:c.1768G>A	NP_000209.2:p.Ala590Thr
NM_181798.1:c.1387G>A , LRG_287t2:c.1387G>A	NP_861463.1:p.Ala463Thr
NM_000218.3:c.1768G>A MANE Select	NP_000209.2:p.Ala590Thr