Canonical Allele Identifier: CA1948196780
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2528004A= , CM000673.2:g.2528004A= GRCh38
NC_000011.9:g.2549234A= , CM000673.1:g.2549234A= GRCh37
NC_000011.8:g.2505810A= NCBI36
NG_008935.1:g.88014A= , LRG_287:g.88014A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.202A= ENSP00000434560.2:p.Thr68=
ENST00000646564.2:c.463A= ENSP00000495806.2:p.Thr155=
ENST00000155840.12:c.463A= MANE Select ENSP00000155840.2:p.Thr155=
ENST00000335475.6:c.82A= ENSP00000334497.5:p.Thr28=
ENST00000646564.1:c.109A= ENSP00000495806.1:p.Thr37=
ENST00000155840.9:c.463A= ENSP00000155840.2:p.Thr155=
ENST00000335475.5:c.82A= ENSP00000334497.5:p.Thr28=
ENST00000496887.6:c.202A= ENSP00000434560.1:p.Thr68=
NM_000218.2:c.463A= , LRG_287t1:c.463A= NP_000209.2:p.Thr155=
NM_181798.1:c.82A= , LRG_287t2:c.82A= NP_861463.1:p.Thr28=
NM_000218.3:c.463A= MANE Select NP_000209.2:p.Thr155=