Canonical Allele Identifier: CA008494

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 53118
• ClinVar RCV Id: RCV001316443 ; RCV001588869 ; RCV001841655
• dbSNP Id: rs199472735
• ExAC: 11:2594155 C / A
• gnomAD v2: 11-2594155-C-A
• gnomAD v3: 11-2572925-C-A
• gnomAD v4: 11-2572925-C-A
• MyVariant Identifiers: chr11:g.2594155C>A (hg19) ; chr11:g.2572925C>A (hg38)
• PubMed: PMID:16414944 ; PMID:22581653 ; PMID:23631430

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572925C>A , CM000673.2:g.2572925C>A	GRCh38
NC_000011.9:g.2594155C>A , CM000673.1:g.2594155C>A	GRCh37
NC_000011.8:g.2550731C>A	NCBI36
NG_008935.1:g.132935C>A , LRG_287:g.132935C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.599C>A	ENSP00000434560.2:p.Ala200Glu
ENST00000646564.2:c.478-10510C>A	ENSP00000495806.2:n.478-10510C>A
ENST00000155840.12:c.860C>A MANE Select	ENSP00000155840.2:p.Ala287Glu
ENST00000335475.6:c.479C>A	ENSP00000334497.5:p.Ala160Glu
ENST00000646564.1:c.124-10510C>A	ENSP00000495806.1:n.124-10510C>A
ENST00000155840.9:c.860C>A	ENSP00000155840.2:p.Ala287Glu
ENST00000335475.5:c.479C>A	ENSP00000334497.5:p.Ala160Glu
NM_000218.2:c.860C>A , LRG_287t1:c.860C>A	NP_000209.2:p.Ala287Glu
NM_181798.1:c.479C>A , LRG_287t2:c.479C>A	NP_861463.1:p.Ala160Glu
NM_000218.3:c.860C>A MANE Select	NP_000209.2:p.Ala287Glu