Canonical Allele Identifier: CA1948261945
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2670307G= , CM000673.2:g.2670307G= GRCh38
NC_000011.9:g.2691537G= , CM000673.1:g.2691537G= GRCh37
NC_000011.8:g.2648113G= NCBI36
NG_008935.1:g.230317G= , LRG_287:g.230317G=
NG_016178.2:g.34692C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1157+8226G= (KCNQ1) ENSP00000434560.2:n.1157+8226G=
ENST00000646564.2:c.974+8226G= (KCNQ1) ENSP00000495806.2:n.974+8226G=
ENST00000155840.12:c.1514+8226G= (KCNQ1) MANE Select ENSP00000155840.2:n.1514+8226G=
ENST00000335475.6:c.1133+8226G= (KCNQ1) ENSP00000334497.5:n.1133+8226G=
ENST00000646564.1:c.620+8226G= (KCNQ1) ENSP00000495806.1:n.620+8226G=
ENST00000155840.9:c.1514+8226G= (KCNQ1) ENSP00000155840.2:n.1514+8226G=
ENST00000335475.5:c.1133+8226G= (KCNQ1) ENSP00000334497.5:n.1133+8226G=
NM_000218.2:c.1514+8226G= , LRG_287t1:c.1514+8226G= (KCNQ1) NP_000209.2:n.1514+8226G=
NM_181798.1:c.1133+8226G= , LRG_287t2:c.1133+8226G= (KCNQ1) NP_861463.1:n.1133+8226G=
NR_002728.3:n.29692C= (KCNQ1OT1)
NM_000218.3:c.1514+8226G= (KCNQ1) MANE Select NP_000209.2:n.1514+8226G=