Canonical Allele Identifier: CA1948160776
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445128C= , CM000673.2:g.2445128C= GRCh38
NC_000011.9:g.2466358C= , CM000673.1:g.2466358C= GRCh37
NC_000011.8:g.2422934C= NCBI36
NG_008935.1:g.5138C= , LRG_287:g.5138C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-255C= ENSP00000434560.2:n.24-255C=
ENST00000646564.2:c.30C= ENSP00000495806.2:p.Ala10=
ENST00000155840.12:c.30C= MANE Select ENSP00000155840.2:p.Ala10=
ENST00000155840.9:c.30C= ENSP00000155840.2:p.Ala10=
ENST00000496887.6:c.24-255C= ENSP00000434560.1:n.24-255C=
NM_000218.2:c.30C= , LRG_287t1:c.30C= NP_000209.2:p.Ala10=
NM_000218.3:c.30C= MANE Select NP_000209.2:p.Ala10=