Canonical Allele Identifier: CA1948349936
Gene: KCNQ1 HGNC NCBI
KCNQ1-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2848351G= , CM000673.2:g.2848351G= GRCh38
NC_000011.9:g.2869581G= , CM000673.1:g.2869581G= GRCh37
NC_000011.8:g.2826157G= NCBI36
NG_008935.1:g.408361G= , LRG_287:g.408361G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.*348G= (KCNQ1) ENSP00000434560.2:n.*348G=
ENST00000155840.12:c.*348G= (KCNQ1) MANE Select ENSP00000155840.2:n.*348G=
ENST00000335475.6:c.*348G= (KCNQ1) ENSP00000334497.5:n.*348G=
ENST00000155840.9:c.*348G= (KCNQ1) ENSP00000155840.2:n.*348G=
ENST00000526095.1:n.886G= (KCNQ1)
NM_000218.2:c.*348G= , LRG_287t1:c.*348G= (KCNQ1) NP_000209.2:n.*348G=
NM_181798.1:c.*348G= , LRG_287t2:c.*348G= (KCNQ1) NP_861463.1:n.*348G=
NR_130721.1:n.778-7909C= (KCNQ1-AS1)
NM_000218.3:c.*348G= (KCNQ1) MANE Select NP_000209.2:n.*348G=