Canonical Allele Identifier: CA1948309489
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2768421C= , CM000673.2:g.2768421C= GRCh38
NC_000011.9:g.2789651C= , CM000673.1:g.2789651C= GRCh37
NC_000011.8:g.2746227C= NCBI36
NG_008935.1:g.328431C= , LRG_287:g.328431C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1158-423C= ENSP00000434560.2:n.1158-423C=
ENST00000646564.2:c.975-423C= ENSP00000495806.2:n.975-423C=
ENST00000155840.12:c.1515-423C= MANE Select ENSP00000155840.2:n.1515-423C=
ENST00000335475.6:c.1134-423C= ENSP00000334497.5:n.1134-423C=
ENST00000646564.1:c.621-423C= ENSP00000495806.1:n.621-423C=
ENST00000155840.9:c.1515-423C= ENSP00000155840.2:n.1515-423C=
ENST00000335475.5:c.1134-423C= ENSP00000334497.5:n.1134-423C=
NM_000218.2:c.1515-423C= , LRG_287t1:c.1515-423C= NP_000209.2:n.1515-423C=
NM_181798.1:c.1134-423C= , LRG_287t2:c.1134-423C= NP_861463.1:n.1134-423C=
NM_000218.3:c.1515-423C= MANE Select NP_000209.2:n.1515-423C=