Canonical Allele Identifier: CA1948292186
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2731322C= , CM000673.2:g.2731322C= GRCh38
NC_000011.9:g.2752552C= , CM000673.1:g.2752552C= GRCh37
NC_000011.8:g.2709128C= NCBI36
NG_008935.1:g.291332C= , LRG_287:g.291332C=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1158-37522C= ENSP00000434560.2:n.1158-37522C=
ENST00000646564.2:c.975-37522C= ENSP00000495806.2:n.975-37522C=
ENST00000155840.12:c.1515-37522C= MANE Select ENSP00000155840.2:n.1515-37522C=
ENST00000335475.6:c.1134-37522C= ENSP00000334497.5:n.1134-37522C=
ENST00000646564.1:c.621-37522C= ENSP00000495806.1:n.621-37522C=
ENST00000155840.9:c.1515-37522C= ENSP00000155840.2:n.1515-37522C=
ENST00000335475.5:c.1134-37522C= ENSP00000334497.5:n.1134-37522C=
NM_000218.2:c.1515-37522C= , LRG_287t1:c.1515-37522C= NP_000209.2:n.1515-37522C=
NM_181798.1:c.1134-37522C= , LRG_287t2:c.1134-37522C= NP_861463.1:n.1134-37522C=
NM_000218.3:c.1515-37522C= MANE Select NP_000209.2:n.1515-37522C=