Canonical Allele Identifier: CA472416248
Gene: KCNQ1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.2466649G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445419G>A , CM000673.2:g.2445419G>A GRCh38
NC_000011.9:g.2466649G>A , CM000673.1:g.2466649G>A GRCh37
NC_000011.8:g.2423225G>A NCBI36
NG_008935.1:g.5429G>A , LRG_287:g.5429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.60G>A ENSP00000434560.2:p.Gln20=
ENST00000646564.2:c.321G>A ENSP00000495806.2:p.Gln107=
ENST00000155840.12:c.321G>A MANE Select ENSP00000155840.2:p.Gln107=
ENST00000155840.9:c.321G>A ENSP00000155840.2:p.Gln107=
ENST00000345015.4:n.98G>A
ENST00000496887.6:c.60G>A ENSP00000434560.1:p.Gln20=
NM_000218.2:c.321G>A , LRG_287t1:c.321G>A NP_000209.2:p.Gln107=
NM_000218.3:c.321G>A MANE Select NP_000209.2:p.Gln107=