Canonical Allele Identifier: CA1948314511
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2776921G= , CM000673.2:g.2776921G= GRCh38
NC_000011.9:g.2798151G= , CM000673.1:g.2798151G= GRCh37
NC_000011.8:g.2754727G= NCBI36
NG_008935.1:g.336931G= , LRG_287:g.336931G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1329-65G= ENSP00000434560.2:n.1329-65G=
ENST00000646564.2:c.1146-65G= ENSP00000495806.2:n.1146-65G=
ENST00000155840.12:c.1686-65G= MANE Select ENSP00000155840.2:n.1686-65G=
ENST00000335475.6:c.1305-65G= ENSP00000334497.5:n.1305-65G=
ENST00000646564.1:c.792-65G= ENSP00000495806.1:n.792-65G=
ENST00000155840.9:c.1686-65G= ENSP00000155840.2:n.1686-65G=
ENST00000335475.5:c.1305-65G= ENSP00000334497.5:n.1305-65G=
NM_000218.2:c.1686-65G= , LRG_287t1:c.1686-65G= NP_000209.2:n.1686-65G=
NM_181798.1:c.1305-65G= , LRG_287t2:c.1305-65G= NP_861463.1:n.1305-65G=
NM_000218.3:c.1686-65G= MANE Select NP_000209.2:n.1686-65G=