Canonical Allele Identifier: CA1948236471
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2588881C= , CM000673.2:g.2588881C= GRCh38
NC_000011.9:g.2610111C= , CM000673.1:g.2610111C= GRCh37
NC_000011.8:g.2566687C= NCBI36
NG_008935.1:g.148891C= , LRG_287:g.148891C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1036+27C= ENSP00000434560.2:n.1036+27C=
ENST00000646564.2:c.853+27C= ENSP00000495806.2:n.853+27C=
ENST00000155840.12:c.1393+27C= MANE Select ENSP00000155840.2:n.1393+27C=
ENST00000335475.6:c.1012+27C= ENSP00000334497.5:n.1012+27C=
ENST00000646564.1:c.499+27C= ENSP00000495806.1:n.499+27C=
ENST00000155840.9:c.1393+27C= ENSP00000155840.2:n.1393+27C=
ENST00000335475.5:c.1012+27C= ENSP00000334497.5:n.1012+27C=
NM_000218.2:c.1393+27C= , LRG_287t1:c.1393+27C= NP_000209.2:n.1393+27C=
NM_181798.1:c.1012+27C= , LRG_287t2:c.1012+27C= NP_861463.1:n.1012+27C=
NM_000218.3:c.1393+27C= MANE Select NP_000209.2:n.1393+27C=