Canonical Allele Identifier: CA1948242904
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2572377G= , CM000673.2:g.2572377G= GRCh38
NC_000011.9:g.2593607G= , CM000673.1:g.2593607G= GRCh37
NC_000011.8:g.2550183G= NCBI36
NG_008935.1:g.132387G= , LRG_287:g.132387G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.519+268G= ENSP00000434560.2:n.519+268G=
ENST00000646564.2:c.478-11058G= ENSP00000495806.2:n.478-11058G=
ENST00000155840.12:c.780+268G= MANE Select ENSP00000155840.2:n.780+268G=
ENST00000335475.6:c.399+268G= ENSP00000334497.5:n.399+268G=
ENST00000646564.1:c.124-11058G= ENSP00000495806.1:n.124-11058G=
ENST00000155840.9:c.780+268G= ENSP00000155840.2:n.780+268G=
ENST00000335475.5:c.399+268G= ENSP00000334497.5:n.399+268G=
ENST00000496887.6:c.519+268G= ENSP00000434560.1:n.519+268G=
NM_000218.2:c.780+268G= , LRG_287t1:c.780+268G= NP_000209.2:n.780+268G=
NM_181798.1:c.399+268G= , LRG_287t2:c.399+268G= NP_861463.1:n.399+268G=
NM_000218.3:c.780+268G= MANE Select NP_000209.2:n.780+268G=