Canonical Allele Identifier: CA1948236940
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2589106G= , CM000673.2:g.2589106G= GRCh38
NC_000011.9:g.2610336G= , CM000673.1:g.2610336G= GRCh37
NC_000011.8:g.2566912G= NCBI36
NG_008935.1:g.149116G= , LRG_287:g.149116G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+252G= ENSP00000434560.2:n.1036+252G=
ENST00000646564.2:c.853+252G= ENSP00000495806.2:n.853+252G=
ENST00000155840.12:c.1393+252G= MANE Select ENSP00000155840.2:n.1393+252G=
ENST00000335475.6:c.1012+252G= ENSP00000334497.5:n.1012+252G=
ENST00000646564.1:c.499+252G= ENSP00000495806.1:n.499+252G=
ENST00000155840.9:c.1393+252G= ENSP00000155840.2:n.1393+252G=
ENST00000335475.5:c.1012+252G= ENSP00000334497.5:n.1012+252G=
NM_000218.2:c.1393+252G= , LRG_287t1:c.1393+252G= NP_000209.2:n.1393+252G=
NM_181798.1:c.1012+252G= , LRG_287t2:c.1012+252G= NP_861463.1:n.1012+252G=
NM_000218.3:c.1393+252G= MANE Select NP_000209.2:n.1393+252G=