Canonical Allele Identifier: CA006001

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67042
• ClinVar RCV Id: RCV000057605 ; RCV000182207 ; RCV000584804 ; RCV000619224 ; RCV000556413 ; RCV001841672
• dbSNP Id: rs199472794
• gnomAD v4: 11-2775985-G-A
• MyVariant Identifiers: chr11:g.2797215G>A (hg19) ; chr11:g.2775985G>A (hg38)
• PubMed: PMID:10728423 ; PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2775985G>A , CM000673.2:g.2775985G>A	GRCh38
NC_000011.9:g.2797215G>A , CM000673.1:g.2797215G>A	GRCh37
NC_000011.8:g.2753791G>A	NCBI36
NG_008935.1:g.335995G>A , LRG_287:g.335995G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1259G>A	ENSP00000434560.2:p.Arg420Gln
ENST00000646564.2:c.1076G>A	ENSP00000495806.2:p.Arg359Gln
ENST00000155840.12:c.1616G>A MANE Select	ENSP00000155840.2:p.Arg539Gln
ENST00000335475.6:c.1235G>A	ENSP00000334497.5:p.Arg412Gln
ENST00000646564.1:c.722G>A	ENSP00000495806.1:p.Arg241Gln
ENST00000155840.9:c.1616G>A	ENSP00000155840.2:p.Arg539Gln
ENST00000335475.5:c.1235G>A	ENSP00000334497.5:p.Arg412Gln
NM_000218.2:c.1616G>A , LRG_287t1:c.1616G>A	NP_000209.2:p.Arg539Gln
NM_181798.1:c.1235G>A , LRG_287t2:c.1235G>A	NP_861463.1:p.Arg412Gln
NM_000218.3:c.1616G>A MANE Select	NP_000209.2:p.Arg539Gln