Canonical Allele Identifier: CA1948315078
Gene: KCNQ1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2777960G= , CM000673.2:g.2777960G= GRCh38
NC_000011.9:g.2799190G= , CM000673.1:g.2799190G= GRCh37
NC_000011.8:g.2755766G= NCBI36
NG_008935.1:g.337970G= , LRG_287:g.337970G=

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1376-16G= ENSP00000434560.2:n.1376-16G=
ENST00000646564.2:c.1193-16G= ENSP00000495806.2:n.1193-16G=
ENST00000155840.12:c.1733-16G= MANE Select ENSP00000155840.2:n.1733-16G=
ENST00000335475.6:c.1352-16G= ENSP00000334497.5:n.1352-16G=
ENST00000526095.2:c.137-16G= ENSP00000494939.1:n.137-16G=
ENST00000646564.1:c.839-16G= ENSP00000495806.1:n.839-16G=
ENST00000155840.9:c.1733-16G= ENSP00000155840.2:n.1733-16G=
ENST00000335475.5:c.1352-16G= ENSP00000334497.5:n.1352-16G=
ENST00000526095.1:n.240-16G=
NM_000218.2:c.1733-16G= , LRG_287t1:c.1733-16G= NP_000209.2:n.1733-16G=
NM_181798.1:c.1352-16G= , LRG_287t2:c.1352-16G= NP_861463.1:n.1352-16G=
NM_000218.3:c.1733-16G= MANE Select NP_000209.2:n.1733-16G=