Canonical Allele Identifier: CA1948224851
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583472C= , CM000673.2:g.2583472C= GRCh38
NC_000011.9:g.2604702C= , CM000673.1:g.2604702C= GRCh37
NC_000011.8:g.2561278C= NCBI36
NG_008935.1:g.143482C= , LRG_287:g.143482C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.698C= ENSP00000434560.2:p.Pro233=
ENST00000646564.2:c.515C= ENSP00000495806.2:p.Pro172=
ENST00000155840.12:c.959C= MANE Select ENSP00000155840.2:p.Pro320=
ENST00000335475.6:c.578C= ENSP00000334497.5:p.Pro193=
ENST00000646564.1:c.161C= ENSP00000495806.1:p.Pro54=
ENST00000155840.9:c.959C= ENSP00000155840.2:p.Pro320=
ENST00000335475.5:c.578C= ENSP00000334497.5:p.Pro193=
NM_000218.2:c.959C= , LRG_287t1:c.959C= NP_000209.2:p.Pro320=
NM_181798.1:c.578C= , LRG_287t2:c.578C= NP_861463.1:p.Pro193=
NM_000218.3:c.959C= MANE Select NP_000209.2:p.Pro320=