Canonical Allele Identifier: CA008554

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 3128
• ClinVar RCV Id: RCV000003276 ; RCV000057789 ; RCV000182128 ; RCV000541920 ; RCV000621158 ; RCV001102803 ; RCV001104722 ; RCV001841225
• dbSNP Id: rs120074187
• ExAC: 11:2594193 G / A
• gnomAD v2: 11-2594193-G-A
• gnomAD v3: 11-2572963-G-A
• gnomAD v4: 11-2572963-G-A
• MyVariant Identifiers: chr11:g.2594193G>A (hg19) ; chr11:g.2572963G>A (hg38)
• PubMed: PMID:9641694 ; PMID:9927399 ; PMID:10737999 ; PMID:11087258 ; PMID:12736279 ; PMID:14678125 ; PMID:17999538 ; PMID:19841300 ; PMID:22581653 ; PMID:22949429 ; PMID:24667783 ; PMID:27041150 ; PMID:27251404

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572963G>A , CM000673.2:g.2572963G>A	GRCh38
NC_000011.9:g.2594193G>A , CM000673.1:g.2594193G>A	GRCh37
NC_000011.8:g.2550769G>A	NCBI36
NG_008935.1:g.132973G>A , LRG_287:g.132973G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.637G>A	ENSP00000434560.2:p.Ala213Thr
ENST00000646564.2:c.478-10472G>A	ENSP00000495806.2:n.478-10472G>A
ENST00000155840.12:c.898G>A MANE Select	ENSP00000155840.2:p.Ala300Thr
ENST00000335475.6:c.517G>A	ENSP00000334497.5:p.Ala173Thr
ENST00000646564.1:c.124-10472G>A	ENSP00000495806.1:n.124-10472G>A
ENST00000155840.9:c.898G>A	ENSP00000155840.2:p.Ala300Thr
ENST00000335475.5:c.517G>A	ENSP00000334497.5:p.Ala173Thr
NM_000218.2:c.898G>A , LRG_287t1:c.898G>A	NP_000209.2:p.Ala300Thr
NM_181798.1:c.517G>A , LRG_287t2:c.517G>A	NP_861463.1:p.Ala173Thr
NM_000218.3:c.898G>A MANE Select	NP_000209.2:p.Ala300Thr