Canonical Allele Identifier: CA1948196766
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527981A= , CM000673.2:g.2527981A= GRCh38
NC_000011.9:g.2549211A= , CM000673.1:g.2549211A= GRCh37
NC_000011.8:g.2505787A= NCBI36
NG_008935.1:g.87991A= , LRG_287:g.87991A=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.179A= ENSP00000434560.2:p.Gln60=
ENST00000646564.2:c.440A= ENSP00000495806.2:p.Gln147=
ENST00000155840.12:c.440A= MANE Select ENSP00000155840.2:p.Gln147=
ENST00000335475.6:c.59A= ENSP00000334497.5:p.Gln20=
ENST00000646564.1:c.86A= ENSP00000495806.1:p.Gln29=
ENST00000155840.9:c.440A= ENSP00000155840.2:p.Gln147=
ENST00000335475.5:c.59A= ENSP00000334497.5:p.Gln20=
ENST00000496887.6:c.179A= ENSP00000434560.1:p.Gln60=
NM_000218.2:c.440A= , LRG_287t1:c.440A= NP_000209.2:p.Gln147=
NM_181798.1:c.59A= , LRG_287t2:c.59A= NP_861463.1:p.Gln20=
NM_000218.3:c.440A= MANE Select NP_000209.2:p.Gln147=