Canonical Allele Identifier: CA1948228608
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2585170G= , CM000673.2:g.2585170G= GRCh38
NC_000011.9:g.2606400G= , CM000673.1:g.2606400G= GRCh37
NC_000011.8:g.2562976G= NCBI36
NG_008935.1:g.145180G= , LRG_287:g.145180G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.771+1625G= ENSP00000434560.2:n.771+1625G=
ENST00000646564.2:c.588+1625G= ENSP00000495806.2:n.588+1625G=
ENST00000155840.12:c.1033-42G= MANE Select ENSP00000155840.2:n.1033-42G=
ENST00000335475.6:c.652-42G= ENSP00000334497.5:n.652-42G=
ENST00000646564.1:c.234+1625G= ENSP00000495806.1:n.234+1625G=
ENST00000155840.9:c.1033-42G= ENSP00000155840.2:n.1033-42G=
ENST00000335475.5:c.652-42G= ENSP00000334497.5:n.652-42G=
NM_000218.2:c.1033-42G= , LRG_287t1:c.1033-42G= NP_000209.2:n.1033-42G=
NM_181798.1:c.652-42G= , LRG_287t2:c.652-42G= NP_861463.1:n.652-42G=
NM_000218.3:c.1033-42G= MANE Select NP_000209.2:n.1033-42G=