Canonical Allele Identifier: CA005664

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67029
• ClinVar RCV Id: RCV000057581 ; RCV000148550 ; RCV001104830 ; RCV001104620 ; RCV001104829 ; RCV001104828 ; RCV001841665 ; RCV002381370
• dbSNP Id: rs199472781
• ExAC: 11:2610043 G / A
• gnomAD v2: 11-2610043-G-A
• gnomAD v3: 11-2588813-G-A
• gnomAD v4: 11-2588813-G-A
• MyVariant Identifiers: chr11:g.2610043G>A (hg19) ; chr11:g.2588813G>A (hg38)
• PubMed: PMID:14661677 ; PMID:15234419 ; PMID:19841300 ; PMID:22378279 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2588813G>A , CM000673.2:g.2588813G>A	GRCh38
NC_000011.9:g.2610043G>A , CM000673.1:g.2610043G>A	GRCh37
NC_000011.8:g.2566619G>A	NCBI36
NG_008935.1:g.148823G>A , LRG_287:g.148823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.995G>A	ENSP00000434560.2:p.Arg332Gln
ENST00000646564.2:c.812G>A	ENSP00000495806.2:p.Arg271Gln
ENST00000155840.12:c.1352G>A MANE Select	ENSP00000155840.2:p.Arg451Gln
ENST00000335475.6:c.971G>A	ENSP00000334497.5:p.Arg324Gln
ENST00000646564.1:c.458G>A	ENSP00000495806.1:p.Arg153Gln
ENST00000155840.9:c.1352G>A	ENSP00000155840.2:p.Arg451Gln
ENST00000335475.5:c.971G>A	ENSP00000334497.5:p.Arg324Gln
NM_000218.2:c.1352G>A , LRG_287t1:c.1352G>A	NP_000209.2:p.Arg451Gln
NM_181798.1:c.971G>A , LRG_287t2:c.971G>A	NP_861463.1:p.Arg324Gln
NM_000218.3:c.1352G>A MANE Select	NP_000209.2:p.Arg451Gln