Canonical Allele Identifier: CA1948247835
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2662045G= , CM000673.2:g.2662045G= GRCh38
NC_000011.9:g.2683275G= , CM000673.1:g.2683275G= GRCh37
NC_000011.8:g.2639851G= NCBI36
NG_008935.1:g.222055G= , LRG_287:g.222055G=
NG_016178.2:g.42954C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1121G= (KCNQ1) ENSP00000434560.2:p.Gly374=
ENST00000646564.2:c.938G= (KCNQ1) ENSP00000495806.2:p.Gly313=
ENST00000155840.12:c.1478G= (KCNQ1) MANE Select ENSP00000155840.2:p.Gly493=
ENST00000335475.6:c.1097G= (KCNQ1) ENSP00000334497.5:p.Gly366=
ENST00000646564.1:c.584G= (KCNQ1) ENSP00000495806.1:p.Gly195=
ENST00000155840.9:c.1478G= (KCNQ1) ENSP00000155840.2:p.Gly493=
ENST00000335475.5:c.1097G= (KCNQ1) ENSP00000334497.5:p.Gly366=
NM_000218.2:c.1478G= , LRG_287t1:c.1478G= (KCNQ1) NP_000209.2:p.Gly493=
NM_181798.1:c.1097G= , LRG_287t2:c.1097G= (KCNQ1) NP_861463.1:p.Gly366=
NR_002728.3:n.37954C= (KCNQ1OT1)
NM_000218.3:c.1478G= (KCNQ1) MANE Select NP_000209.2:p.Gly493=