Canonical Allele Identifier: CA007971

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 191477
• ClinVar RCV Id: RCV000171670 ; RCV001209970 ; RCV002372070
• dbSNP Id: rs199956744
• ExAC: 11:2593280 G / A
• gnomAD v2: 11-2593280-G-A
• gnomAD v3: 11-2572050-G-A
• gnomAD v4: 11-2572050-G-A
• MyVariant Identifiers: chr11:g.2593280G>A (hg19) ; chr11:g.2572050G>A (hg38)
• PubMed: PMID:23861362

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572050G>A , CM000673.2:g.2572050G>A	GRCh38
NC_000011.9:g.2593280G>A , CM000673.1:g.2593280G>A	GRCh37
NC_000011.8:g.2549856G>A	NCBI36
NG_008935.1:g.132060G>A , LRG_287:g.132060G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.460G>A	ENSP00000434560.2:p.Val154Ile
ENST00000646564.2:c.478-11385G>A	ENSP00000495806.2:n.478-11385G>A
ENST00000155840.12:c.721G>A MANE Select	ENSP00000155840.2:p.Val241Ile
ENST00000335475.6:c.340G>A	ENSP00000334497.5:p.Val114Ile
ENST00000646564.1:c.124-11385G>A	ENSP00000495806.1:n.124-11385G>A
ENST00000155840.9:c.721G>A	ENSP00000155840.2:p.Val241Ile
ENST00000335475.5:c.340G>A	ENSP00000334497.5:p.Val114Ile
ENST00000496887.6:c.460G>A	ENSP00000434560.1:p.Val154Ile
NM_000218.2:c.721G>A , LRG_287t1:c.721G>A	NP_000209.2:p.Val241Ile
NM_181798.1:c.340G>A , LRG_287t2:c.340G>A	NP_861463.1:p.Val114Ile
NM_000218.3:c.721G>A MANE Select	NP_000209.2:p.Val241Ile