Canonical Allele Identifier: CA1948314105
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2776102G= , CM000673.2:g.2776102G= GRCh38
NC_000011.9:g.2797332G= , CM000673.1:g.2797332G= GRCh37
NC_000011.8:g.2753908G= NCBI36
NG_008935.1:g.336112G= , LRG_287:g.336112G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.1328+48G= ENSP00000434560.2:n.1328+48G=
ENST00000646564.2:c.1145+48G= ENSP00000495806.2:n.1145+48G=
ENST00000155840.12:c.1685+48G= MANE Select ENSP00000155840.2:n.1685+48G=
ENST00000335475.6:c.1304+48G= ENSP00000334497.5:n.1304+48G=
ENST00000646564.1:c.791+48G= ENSP00000495806.1:n.791+48G=
ENST00000155840.9:c.1685+48G= ENSP00000155840.2:n.1685+48G=
ENST00000335475.5:c.1304+48G= ENSP00000334497.5:n.1304+48G=
NM_000218.2:c.1685+48G= , LRG_287t1:c.1685+48G= NP_000209.2:n.1685+48G=
NM_181798.1:c.1304+48G= , LRG_287t2:c.1304+48G= NP_861463.1:n.1304+48G=
NM_000218.3:c.1685+48G= MANE Select NP_000209.2:n.1685+48G=