Canonical Allele Identifier: CA379133092

Gene: KCNQ1

Linked Data

• ClinVar Variation Id: 1506528
• ClinVar RCV Id: RCV002006797
• dbSNP Id: rs2133750895
• gnomAD v4: 11-2583517-T-G
• MyVariant Identifiers: chr11:g.2604747T>G (hg19) ; chr11:g.2583517T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.2583517T>G , CM000673.2:g.2583517T>G	GRCh38
NC_000011.9:g.2604747T>G , CM000673.1:g.2604747T>G	GRCh37
NC_000011.8:g.2561323T>G	NCBI36
NG_008935.1:g.143527T>G , LRG_287:g.143527T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000496887.7:c.743T>G	ENSP00000434560.2:p.Phe248Cys
ENST00000646564.2:c.560T>G	ENSP00000495806.2:p.Phe187Cys
ENST00000155840.12:c.1004T>G MANE Select	ENSP00000155840.2:p.Phe335Cys
ENST00000335475.6:c.623T>G	ENSP00000334497.5:p.Phe208Cys
ENST00000646564.1:c.206T>G	ENSP00000495806.1:p.Phe69Cys
ENST00000155840.9:c.1004T>G	ENSP00000155840.2:p.Phe335Cys
ENST00000335475.5:c.623T>G	ENSP00000334497.5:p.Phe208Cys
NM_000218.2:c.1004T>G , LRG_287t1:c.1004T>G	NP_000209.2:p.Phe335Cys
NM_181798.1:c.623T>G , LRG_287t2:c.623T>G	NP_861463.1:p.Phe208Cys
NM_000218.3:c.1004T>G MANE Select	NP_000209.2:p.Phe335Cys