Canonical Allele Identifier: CA1948225591
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583748G= , CM000673.2:g.2583748G= GRCh38
NC_000011.9:g.2604978G= , CM000673.1:g.2604978G= GRCh37
NC_000011.8:g.2561554G= NCBI36
NG_008935.1:g.143758G= , LRG_287:g.143758G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.771+203G= ENSP00000434560.2:n.771+203G=
ENST00000646564.2:c.588+203G= ENSP00000495806.2:n.588+203G=
ENST00000155840.12:c.1032+203G= MANE Select ENSP00000155840.2:n.1032+203G=
ENST00000335475.6:c.651+203G= ENSP00000334497.5:n.651+203G=
ENST00000646564.1:c.234+203G= ENSP00000495806.1:n.234+203G=
ENST00000155840.9:c.1032+203G= ENSP00000155840.2:n.1032+203G=
ENST00000335475.5:c.651+203G= ENSP00000334497.5:n.651+203G=
NM_000218.2:c.1032+203G= , LRG_287t1:c.1032+203G= NP_000209.2:n.1032+203G=
NM_181798.1:c.651+203G= , LRG_287t2:c.651+203G= NP_861463.1:n.651+203G=
NM_000218.3:c.1032+203G= MANE Select NP_000209.2:n.1032+203G=