Canonical Allele Identifier: CA008316

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53109
• ClinVar RCV Id: RCV000046134 ; RCV000057767 ; RCV000523854 ; RCV002490608 ; RCV002415500
• dbSNP Id: rs199472726
• ExAC: 11:2594110 G / A
• gnomAD v2: 11-2594110-G-A
• gnomAD v4: 11-2572880-G-A
• MyVariant Identifiers: chr11:g.2594110G>A (hg19) ; chr11:g.2572880G>A (hg38)
• PubMed: PMID:11140949 ; PMID:16414944 ; PMID:19716085 ; PMID:19841300 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572880G>A , CM000673.2:g.2572880G>A	GRCh38
NC_000011.9:g.2594110G>A , CM000673.1:g.2594110G>A	GRCh37
NC_000011.8:g.2550686G>A	NCBI36
NG_008935.1:g.132890G>A , LRG_287:g.132890G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.554G>A	ENSP00000434560.2:p.Gly185Asp
ENST00000646564.2:c.478-10555G>A	ENSP00000495806.2:n.478-10555G>A
ENST00000155840.12:c.815G>A MANE Select	ENSP00000155840.2:p.Gly272Asp
ENST00000335475.6:c.434G>A	ENSP00000334497.5:p.Gly145Asp
ENST00000646564.1:c.124-10555G>A	ENSP00000495806.1:n.124-10555G>A
ENST00000155840.9:c.815G>A	ENSP00000155840.2:p.Gly272Asp
ENST00000335475.5:c.434G>A	ENSP00000334497.5:p.Gly145Asp
ENST00000496887.6:c.554G>A	ENSP00000434560.1:p.Gly185Asp
NM_000218.2:c.815G>A , LRG_287t1:c.815G>A	NP_000209.2:p.Gly272Asp
NM_181798.1:c.434G>A , LRG_287t2:c.434G>A	NP_861463.1:p.Gly145Asp
NM_000218.3:c.815G>A MANE Select	NP_000209.2:p.Gly272Asp