Canonical Allele Identifier: CA005367
Gene: KCNQ1 HGNC NCBI

Linked Data

ClinVar Variation Id: 200842
dbSNP Id: rs76735093

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585312G>A , CM000673.2:g.2585312G>A GRCh38
NC_000011.9:g.2606542G>A , CM000673.1:g.2606542G>A GRCh37
NC_000011.8:g.2563118G>A NCBI36
NG_008935.1:g.145322G>A , LRG_287:g.145322G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000155840.12:c.1128+5G>A MANE Select ENSP00000155840.2:p.=
ENST00000335475.6:c.747+5G>A ENSP00000334497.5:p.=
ENST00000646564.1:n.234+1767G>A ENSP00000495806.1:p.=
ENST00000155840.9:c.1128+5G>A ENSP00000155840.2:p.=
ENST00000335475.5:c.747+5G>A ENSP00000334497.5:p.=
NM_000218.2:c.1128+5G>A , LRG_287t1:c.1128+5G>A NP_000209.2:p.=
NM_181798.1:c.747+5G>A , LRG_287t2:c.747+5G>A NP_861463.1:p.=
NM_000218.3:c.1128+5G>A MANE Select NP_000209.2:p.=