Canonical Allele Identifier: CA007717

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53077
• ClinVar RCV Id: RCV000057718 ; RCV000182091 ; RCV000620936 ; RCV001379267 ; RCV002483052 ; RCV003236664 ; RCV003492374 ; RCV003591645
• dbSNP Id: rs199472702
• ExAC: 11:2591984 G / A
• gnomAD v2: 11-2591984-G-A
• gnomAD v3: 11-2570754-G-A
• gnomAD v4: 11-2570754-G-A
• MyVariant Identifiers: chr11:g.2591984G>A (hg19) ; chr11:g.2570754G>A (hg38)
• PubMed: PMID:12051962 ; PMID:12653681 ; PMID:19716085 ; PMID:20421371 ; PMID:22581653 ; PMID:23392653 ; PMID:24372464

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2570754G>A , CM000673.2:g.2570754G>A	GRCh38
NC_000011.9:g.2591984G>A , CM000673.1:g.2591984G>A	GRCh37
NC_000011.8:g.2548560G>A	NCBI36
NG_008935.1:g.130764G>A , LRG_287:g.130764G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.343G>A	ENSP00000434560.2:p.Asp115Asn
ENST00000646564.2:c.478-12681G>A	ENSP00000495806.2:n.478-12681G>A
ENST00000155840.12:c.604G>A MANE Select	ENSP00000155840.2:p.Asp202Asn
ENST00000335475.6:c.223G>A	ENSP00000334497.5:p.Asp75Asn
ENST00000646564.1:c.124-12681G>A	ENSP00000495806.1:n.124-12681G>A
ENST00000155840.9:c.604G>A	ENSP00000155840.2:p.Asp202Asn
ENST00000335475.5:c.223G>A	ENSP00000334497.5:p.Asp75Asn
ENST00000496887.6:c.343G>A	ENSP00000434560.1:p.Asp115Asn
NM_000218.2:c.604G>A , LRG_287t1:c.604G>A	NP_000209.2:p.Asp202Asn
NM_181798.1:c.223G>A , LRG_287t2:c.223G>A	NP_861463.1:p.Asp75Asn
NM_000218.3:c.604G>A MANE Select	NP_000209.2:p.Asp202Asn