Canonical Allele Identifier: CA006138

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 67046
• ClinVar RCV Id: RCV000057612 ; RCV000479287 ; RCV001226497 ; RCV003591657
• dbSNP Id: rs120074185
• ExAC: 11:2797262 C / A
• gnomAD v2: 11-2797262-C-A
• gnomAD v4: 11-2776032-C-A
• MyVariant Identifiers: chr11:g.2797262C>A (hg19) ; chr11:g.2776032C>A (hg38)
• PubMed: PMID:19716085 ; PMID:22581653

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2776032C>A , CM000673.2:g.2776032C>A	GRCh38
NC_000011.9:g.2797262C>A , CM000673.1:g.2797262C>A	GRCh37
NC_000011.8:g.2753838C>A	NCBI36
NG_008935.1:g.336042C>A , LRG_287:g.336042C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.1306C>A	ENSP00000434560.2:p.Arg436Ser
ENST00000646564.2:c.1123C>A	ENSP00000495806.2:p.Arg375Ser
ENST00000155840.12:c.1663C>A MANE Select	ENSP00000155840.2:p.Arg555Ser
ENST00000335475.6:c.1282C>A	ENSP00000334497.5:p.Arg428Ser
ENST00000646564.1:c.769C>A	ENSP00000495806.1:p.Arg257Ser
ENST00000155840.9:c.1663C>A	ENSP00000155840.2:p.Arg555Ser
ENST00000335475.5:c.1282C>A	ENSP00000334497.5:p.Arg428Ser
NM_000218.2:c.1663C>A , LRG_287t1:c.1663C>A	NP_000209.2:p.Arg555Ser
NM_181798.1:c.1282C>A , LRG_287t2:c.1282C>A	NP_861463.1:p.Arg428Ser
NM_000218.3:c.1663C>A MANE Select	NP_000209.2:p.Arg555Ser