Canonical Allele Identifier: CA379134666

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 928367
• ClinVar RCV Id: RCV001841173 ; RCV001859162
• dbSNP Id: rs1848610060
• gnomAD v4: 11-2587584-C-G
• MyVariant Identifiers: chr11:g.2608814C>G (hg19) ; chr11:g.2587584C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2587584C>G , CM000673.2:g.2587584C>G	GRCh38
NC_000011.9:g.2608814C>G , CM000673.1:g.2608814C>G	GRCh37
NC_000011.8:g.2565390C>G	NCBI36
NG_008935.1:g.147594C>G , LRG_287:g.147594C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000496887.7:c.786C>G	ENSP00000434560.2:p.Cys262Trp
ENST00000646564.2:c.603C>G	ENSP00000495806.2:p.Cys201Trp
ENST00000155840.12:c.1143C>G MANE Select	ENSP00000155840.2:p.Cys381Trp
ENST00000335475.6:c.762C>G	ENSP00000334497.5:p.Cys254Trp
ENST00000646564.1:c.249C>G	ENSP00000495806.1:p.Cys83Trp
ENST00000155840.9:c.1143C>G	ENSP00000155840.2:p.Cys381Trp
ENST00000335475.5:c.762C>G	ENSP00000334497.5:p.Cys254Trp
NM_000218.2:c.1143C>G , LRG_287t1:c.1143C>G	NP_000209.2:p.Cys381Trp
NM_181798.1:c.762C>G , LRG_287t2:c.762C>G	NP_861463.1:p.Cys254Trp
NM_000218.3:c.1143C>G MANE Select	NP_000209.2:p.Cys381Trp