Canonical Allele Identifier: CA1948236906
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2589090_2589091delinsGT , CM000673.2:g.2589090_2589091delinsGT GRCh38
NC_000011.9:g.2610320_2610321delinsGT , CM000673.1:g.2610320_2610321delinsGT GRCh37
NC_000011.8:g.2566896_2566897delinsGT NCBI36
NG_008935.1:g.149100_149101delinsGT , LRG_287:g.149100_149101delinsGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+236_1036+237delinsGT ENSP00000434560.2:n.1036+236_1036+237delinsGT
ENST00000646564.2:c.853+236_853+237delinsGT ENSP00000495806.2:n.853+236_853+237delinsGT
ENST00000155840.12:c.1393+236_1393+237delinsGT MANE Select ENSP00000155840.2:n.1393+236_1393+237delinsGT
ENST00000335475.6:c.1012+236_1012+237delinsGT ENSP00000334497.5:n.1012+236_1012+237delinsGT
ENST00000646564.1:c.499+236_499+237delinsGT ENSP00000495806.1:n.499+236_499+237delinsGT
ENST00000155840.9:c.1393+236_1393+237delinsGT ENSP00000155840.2:n.1393+236_1393+237delinsGT
ENST00000335475.5:c.1012+236_1012+237delinsGT ENSP00000334497.5:n.1012+236_1012+237delinsGT
NM_000218.2:c.1393+236_1393+237delinsGT , LRG_287t1:c.1393+236_1393+237delinsGT NP_000209.2:n.1393+236_1393+237delinsGT
NM_181798.1:c.1012+236_1012+237delinsGT , LRG_287t2:c.1012+236_1012+237delinsGT NP_861463.1:n.1012+236_1012+237delinsGT
NM_000218.3:c.1393+236_1393+237delinsGT MANE Select NP_000209.2:n.1393+236_1393+237delinsGT