Canonical Allele Identifier: CA1948224543
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583434G= , CM000673.2:g.2583434G= GRCh38
NC_000011.9:g.2604664G= , CM000673.1:g.2604664G= GRCh37
NC_000011.8:g.2561240G= NCBI36
NG_008935.1:g.143444G= , LRG_287:g.143444G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.661-1G= ENSP00000434560.2:n.661-1G=
ENST00000646564.2:c.478-1G= ENSP00000495806.2:n.478-1G=
ENST00000155840.12:c.922-1G= MANE Select ENSP00000155840.2:n.922-1G=
ENST00000335475.6:c.541-1G= ENSP00000334497.5:n.541-1G=
ENST00000646564.1:c.124-1G= ENSP00000495806.1:n.124-1G=
ENST00000155840.9:c.922-1G= ENSP00000155840.2:n.922-1G=
ENST00000335475.5:c.541-1G= ENSP00000334497.5:n.541-1G=
NM_000218.2:c.922-1G= , LRG_287t1:c.922-1G= NP_000209.2:n.922-1G=
NM_181798.1:c.541-1G= , LRG_287t2:c.541-1G= NP_861463.1:n.541-1G=
NM_000218.3:c.922-1G= MANE Select NP_000209.2:n.922-1G=