Canonical Allele Identifier: CA379132950
Gene: KCNQ1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583435G>A , CM000673.2:g.2583435G>A GRCh38
NC_000011.9:g.2604665G>A , CM000673.1:g.2604665G>A GRCh37
NC_000011.8:g.2561241G>A NCBI36
NG_008935.1:g.143445G>A , LRG_287:g.143445G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.661G>A ENSP00000434560.2:p.Val221Ile
ENST00000646564.2:c.478G>A ENSP00000495806.2:p.Val160Ile
ENST00000155840.12:c.922G>A MANE Select ENSP00000155840.2:p.Val308Ile
ENST00000335475.6:c.541G>A ENSP00000334497.5:p.Val181Ile
ENST00000646564.1:c.124G>A ENSP00000495806.1:p.Val42Ile
ENST00000155840.9:c.922G>A ENSP00000155840.2:p.Val308Ile
ENST00000335475.5:c.541G>A ENSP00000334497.5:p.Val181Ile
NM_000218.2:c.922G>A , LRG_287t1:c.922G>A NP_000209.2:p.Val308Ile
NM_181798.1:c.541G>A , LRG_287t2:c.541G>A NP_861463.1:p.Val181Ile
NM_000218.3:c.922G>A MANE Select NP_000209.2:p.Val308Ile