Canonical Allele Identifier: CA008003

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67100
• ClinVar RCV Id: RCV000057740 ; RCV000631706
• dbSNP Id: rs199472713
• gnomAD v4: 11-2572056-C-A
• MyVariant Identifiers: chr11:g.2593286C>A (hg19) ; chr11:g.2572056C>A (hg38)
• PubMed: PMID:19490272 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2572056C>A , CM000673.2:g.2572056C>A	GRCh38
NC_000011.9:g.2593286C>A , CM000673.1:g.2593286C>A	GRCh37
NC_000011.8:g.2549862C>A	NCBI36
NG_008935.1:g.132066C>A , LRG_287:g.132066C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.466C>A	ENSP00000434560.2:p.Arg156Ser
ENST00000646564.2:c.478-11379C>A	ENSP00000495806.2:n.478-11379C>A
ENST00000155840.12:c.727C>A MANE Select	ENSP00000155840.2:p.Arg243Ser
ENST00000335475.6:c.346C>A	ENSP00000334497.5:p.Arg116Ser
ENST00000646564.1:c.124-11379C>A	ENSP00000495806.1:n.124-11379C>A
ENST00000155840.9:c.727C>A	ENSP00000155840.2:p.Arg243Ser
ENST00000335475.5:c.346C>A	ENSP00000334497.5:p.Arg116Ser
ENST00000496887.6:c.466C>A	ENSP00000434560.1:p.Arg156Ser
NM_000218.2:c.727C>A , LRG_287t1:c.727C>A	NP_000209.2:p.Arg243Ser
NM_181798.1:c.346C>A , LRG_287t2:c.346C>A	NP_861463.1:p.Arg116Ser
NM_000218.3:c.727C>A MANE Select	NP_000209.2:p.Arg243Ser