Canonical Allele Identifier: CA1948224179
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583183C= , CM000673.2:g.2583183C= GRCh38
NC_000011.9:g.2604413C= , CM000673.1:g.2604413C= GRCh37
NC_000011.8:g.2560989C= NCBI36
NG_008935.1:g.143193C= , LRG_287:g.143193C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.661-252C= ENSP00000434560.2:n.661-252C=
ENST00000646564.2:c.478-252C= ENSP00000495806.2:n.478-252C=
ENST00000155840.12:c.922-252C= MANE Select ENSP00000155840.2:n.922-252C=
ENST00000335475.6:c.541-252C= ENSP00000334497.5:n.541-252C=
ENST00000646564.1:c.124-252C= ENSP00000495806.1:n.124-252C=
ENST00000155840.9:c.922-252C= ENSP00000155840.2:n.922-252C=
ENST00000335475.5:c.541-252C= ENSP00000334497.5:n.541-252C=
NM_000218.2:c.922-252C= , LRG_287t1:c.922-252C= NP_000209.2:n.922-252C=
NM_181798.1:c.541-252C= , LRG_287t2:c.541-252C= NP_861463.1:n.541-252C=
NM_000218.3:c.922-252C= MANE Select NP_000209.2:n.922-252C=