Canonical Allele Identifier: CA1948315007
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777802G= , CM000673.2:g.2777802G= GRCh38
NC_000011.9:g.2799032G= , CM000673.1:g.2799032G= GRCh37
NC_000011.8:g.2755608G= NCBI36
NG_008935.1:g.337812G= , LRG_287:g.337812G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1376-174G= ENSP00000434560.2:n.1376-174G=
ENST00000646564.2:c.1193-174G= ENSP00000495806.2:n.1193-174G=
ENST00000155840.12:c.1733-174G= MANE Select ENSP00000155840.2:n.1733-174G=
ENST00000335475.6:c.1352-174G= ENSP00000334497.5:n.1352-174G=
ENST00000526095.2:c.125G= ENSP00000494939.1:p.Arg42=
ENST00000646564.1:c.839-174G= ENSP00000495806.1:n.839-174G=
ENST00000155840.9:c.1733-174G= ENSP00000155840.2:n.1733-174G=
ENST00000335475.5:c.1352-174G= ENSP00000334497.5:n.1352-174G=
ENST00000526095.1:n.228G=
NM_000218.2:c.1733-174G= , LRG_287t1:c.1733-174G= NP_000209.2:n.1733-174G=
NM_181798.1:c.1352-174G= , LRG_287t2:c.1352-174G= NP_861463.1:n.1352-174G=
NM_000218.3:c.1733-174G= MANE Select NP_000209.2:n.1733-174G=