Canonical Allele Identifier: CA1948253191
Community Standard Title: NM_000218.3(KCNQ1):c.1393+29628G=
Gene: KCNQ1 HGNC NCBI
KCNQ1OT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2618482G= , CM000673.2:g.2618482G= GRCh38
NC_000011.9:g.2639712G= , CM000673.1:g.2639712G= GRCh37
NC_000011.8:g.2596288G= NCBI36
NG_008935.1:g.178492G= , LRG_287:g.178492G=
NG_016178.2:g.86517C=

Transcript Alleles

HGVS Amino-acid Change
NM_000218.3:c.1393+29628G= (KCNQ1) MANE Select NP_000209.2:n.1393+29628G=
ENST00000155840.12:c.1393+29628G= (KCNQ1) MANE Select ENSP00000155840.2:n.1393+29628G=
NM_000218.2:c.1393+29628G= , LRG_287t1:c.1393+29628G= (KCNQ1) NP_000209.2:n.1393+29628G=
NM_181798.1:c.1012+29628G= , LRG_287t2:c.1012+29628G= (KCNQ1) NP_861463.1:n.1012+29628G=
NR_002728.3:n.81517C= (KCNQ1OT1)
ENST00000155840.9:c.1393+29628G= (KCNQ1) ENSP00000155840.2:n.1393+29628G=
ENST00000335475.5:c.1012+29628G= (KCNQ1) ENSP00000334497.5:n.1012+29628G=
ENST00000335475.6:c.1012+29628G= (KCNQ1) ENSP00000334497.5:n.1012+29628G=
ENST00000496887.7:c.1036+29628G= (KCNQ1) ENSP00000434560.2:n.1036+29628G=
ENST00000646564.1:c.499+29628G= (KCNQ1) ENSP00000495806.1:n.499+29628G=
ENST00000646564.2:c.853+29628G= (KCNQ1) ENSP00000495806.2:n.853+29628G=