Canonical Allele Identifier: CA1948160950
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445320A= , CM000673.2:g.2445320A= GRCh38
NC_000011.9:g.2466550A= , CM000673.1:g.2466550A= GRCh37
NC_000011.8:g.2423126A= NCBI36
NG_008935.1:g.5330A= , LRG_287:g.5330A=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-63A= ENSP00000434560.2:n.24-63A=
ENST00000646564.2:c.222A= ENSP00000495806.2:p.Pro74=
ENST00000155840.12:c.222A= MANE Select ENSP00000155840.2:p.Pro74=
ENST00000155840.9:c.222A= ENSP00000155840.2:p.Pro74=
ENST00000496887.6:c.24-63A= ENSP00000434560.1:n.24-63A=
NM_000218.2:c.222A= , LRG_287t1:c.222A= NP_000209.2:p.Pro74=
NM_000218.3:c.222A= MANE Select NP_000209.2:p.Pro74=