Canonical Allele Identifier: CA007007
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 53041
ClinVar RCV Id: RCV000057670
dbSNP Id: rs199472686
gnomAD v4: 11-2527948-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527948G>T , CM000673.2:g.2527948G>T GRCh38
NC_000011.9:g.2549178G>T , CM000673.1:g.2549178G>T GRCh37
NC_000011.8:g.2505754G>T NCBI36
NG_008935.1:g.87958G>T , LRG_287:g.87958G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000380776.5:n.204G>T
ENST00000496887.7:c.146G>T ENSP00000434560.2:p.Cys49Phe
ENST00000646564.2:c.407G>T ENSP00000495806.2:p.Cys136Phe
ENST00000155840.12:c.407G>T MANE Select ENSP00000155840.2:p.Cys136Phe
ENST00000335475.6:c.26G>T ENSP00000334497.5:p.Cys9Phe
ENST00000646564.1:c.53G>T ENSP00000495806.1:p.Cys18Phe
ENST00000155840.9:c.407G>T ENSP00000155840.2:p.Cys136Phe
ENST00000335475.5:c.26G>T ENSP00000334497.5:p.Cys9Phe
ENST00000345015.4:n.276G>T
ENST00000380776.4:c.197G>T ENSP00000370153.4:p.Cys66Phe
ENST00000496887.6:c.146G>T ENSP00000434560.1:p.Cys49Phe
NM_000218.2:c.407G>T , LRG_287t1:c.407G>T NP_000209.2:p.Cys136Phe
NM_181798.1:c.26G>T , LRG_287t2:c.26G>T NP_861463.1:p.Cys9Phe
NM_000218.3:c.407G>T MANE Select NP_000209.2:p.Cys136Phe