Canonical Allele Identifier: CA1948160514
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2444995C= , CM000673.2:g.2444995C= GRCh38
NC_000011.9:g.2466225C= , CM000673.1:g.2466225C= GRCh37
NC_000011.8:g.2422801C= NCBI36
NG_008935.1:g.5005C= , LRG_287:g.5005C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.23+287C= ENSP00000434560.2:n.23+287C=
ENST00000155840.9:c.-104C= ENSP00000155840.2:n.-104C=
ENST00000496887.6:c.23+287C= ENSP00000434560.1:n.23+287C=
NM_000218.2:c.-104C= , LRG_287t1:c.-104C= NP_000209.2:n.-104C=