Canonical Allele Identifier: CA1948196761
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2527971A= , CM000673.2:g.2527971A= GRCh38
NC_000011.9:g.2549201A= , CM000673.1:g.2549201A= GRCh37
NC_000011.8:g.2505777A= NCBI36
NG_008935.1:g.87981A= , LRG_287:g.87981A=

Transcript Alleles

HGVS Amino-acid change
ENST00000380776.5:n.227A=
ENST00000496887.7:c.169A= ENSP00000434560.2:p.Thr57=
ENST00000646564.2:c.430A= ENSP00000495806.2:p.Thr144=
ENST00000155840.12:c.430A= MANE Select ENSP00000155840.2:p.Thr144=
ENST00000335475.6:c.49A= ENSP00000334497.5:p.Thr17=
ENST00000646564.1:c.76A= ENSP00000495806.1:p.Thr26=
ENST00000155840.9:c.430A= ENSP00000155840.2:p.Thr144=
ENST00000335475.5:c.49A= ENSP00000334497.5:p.Thr17=
ENST00000345015.4:n.299A=
ENST00000380776.4:c.220A= ENSP00000370153.4:p.Thr74=
ENST00000496887.6:c.169A= ENSP00000434560.1:p.Thr57=
NM_000218.2:c.430A= , LRG_287t1:c.430A= NP_000209.2:p.Thr144=
NM_181798.1:c.49A= , LRG_287t2:c.49A= NP_861463.1:p.Thr17=
NM_000218.3:c.430A= MANE Select NP_000209.2:p.Thr144=