Canonical Allele Identifier: CA008303
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200899
ClinVar RCV Id: RCV000182307
dbSNP Id: rs120074194

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572871G>T , CM000673.2:g.2572871G>T GRCh38
NC_000011.9:g.2594101G>T , CM000673.1:g.2594101G>T GRCh37
NC_000011.8:g.2550677G>T NCBI36
NG_008935.1:g.132881G>T , LRG_287:g.132881G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.806G>T MANE Select ENSP00000155840.2:p.Gly269Val
ENST00000335475.6:c.425G>T ENSP00000334497.5:p.Gly142Val
ENST00000646564.1:n.124-10564G>T ENSP00000495806.1:p.=
ENST00000155840.9:c.806G>T ENSP00000155840.2:p.Gly269Val
ENST00000335475.5:c.425G>T ENSP00000334497.5:p.Gly142Val
ENST00000496887.6:c.545G>T ENSP00000434560.1:p.Gly182Val
NM_000218.2:c.806G>T , LRG_287t1:c.806G>T NP_000209.2:p.Gly269Val
NM_181798.1:c.425G>T , LRG_287t2:c.425G>T NP_861463.1:p.Gly142Val
NM_000218.3:c.806G>T MANE Select NP_000209.2:p.Gly269Val