Canonical Allele Identifier: CA1948224634
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583445C= , CM000673.2:g.2583445C= GRCh38
NC_000011.9:g.2604675C= , CM000673.1:g.2604675C= GRCh37
NC_000011.8:g.2561251C= NCBI36
NG_008935.1:g.143455C= , LRG_287:g.143455C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.671C= ENSP00000434560.2:p.Thr224=
ENST00000646564.2:c.488C= ENSP00000495806.2:p.Thr163=
ENST00000155840.12:c.932C= MANE Select ENSP00000155840.2:p.Thr311=
ENST00000335475.6:c.551C= ENSP00000334497.5:p.Thr184=
ENST00000646564.1:c.134C= ENSP00000495806.1:p.Thr45=
ENST00000155840.9:c.932C= ENSP00000155840.2:p.Thr311=
ENST00000335475.5:c.551C= ENSP00000334497.5:p.Thr184=
NM_000218.2:c.932C= , LRG_287t1:c.932C= NP_000209.2:p.Thr311=
NM_181798.1:c.551C= , LRG_287t2:c.551C= NP_861463.1:p.Thr184=
NM_000218.3:c.932C= MANE Select NP_000209.2:p.Thr311=