Canonical Allele Identifier: CA1948160974
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2445365G= , CM000673.2:g.2445365G= GRCh38
NC_000011.9:g.2466595G= , CM000673.1:g.2466595G= GRCh37
NC_000011.8:g.2423171G= NCBI36
NG_008935.1:g.5375G= , LRG_287:g.5375G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.24-18G= ENSP00000434560.2:n.24-18G=
ENST00000646564.2:c.267G= ENSP00000495806.2:p.Pro89=
ENST00000155840.12:c.267G= MANE Select ENSP00000155840.2:p.Pro89=
ENST00000155840.9:c.267G= ENSP00000155840.2:p.Pro89=
ENST00000345015.4:n.44G=
ENST00000496887.6:c.24-18G= ENSP00000434560.1:n.24-18G=
NM_000218.2:c.267G= , LRG_287t1:c.267G= NP_000209.2:p.Pro89=
NM_000218.3:c.267G= MANE Select NP_000209.2:p.Pro89=