Canonical Allele Identifier: CA1948160755
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445118C= , CM000673.2:g.2445118C= GRCh38
NC_000011.9:g.2466348C= , CM000673.1:g.2466348C= GRCh37
NC_000011.8:g.2422924C= NCBI36
NG_008935.1:g.5128C= , LRG_287:g.5128C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-265C= ENSP00000434560.2:n.24-265C=
ENST00000646564.2:c.20C= ENSP00000495806.2:p.Pro7=
ENST00000155840.12:c.20C= MANE Select ENSP00000155840.2:p.Pro7=
ENST00000155840.9:c.20C= ENSP00000155840.2:p.Pro7=
ENST00000496887.6:c.24-265C= ENSP00000434560.1:n.24-265C=
NM_000218.2:c.20C= , LRG_287t1:c.20C= NP_000209.2:p.Pro7=
NM_000218.3:c.20C= MANE Select NP_000209.2:p.Pro7=