Canonical Allele Identifier: CA1948273232
Gene: KCNQ1 HGNC NCBI

Linked Data

dbSNP Id: rs1850831291
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2702406G>A , CM000673.2:g.2702406G>A GRCh38
NC_000011.9:g.2723636G>A , CM000673.1:g.2723636G>A GRCh37
NC_000011.8:g.2680212G>A NCBI36
NG_008935.1:g.262416G>A , LRG_287:g.262416G>A
NG_016178.2:g.2593C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000496887.7:c.1157+40325G>A ENSP00000434560.2:n.1157+40325G>A
ENST00000646564.2:c.974+40325G>A ENSP00000495806.2:n.974+40325G>A
ENST00000155840.12:c.1514+40325G>A MANE Select ENSP00000155840.2:n.1514+40325G>A
ENST00000335475.6:c.1133+40325G>A ENSP00000334497.5:n.1133+40325G>A
ENST00000646564.1:c.620+40325G>A ENSP00000495806.1:n.620+40325G>A
ENST00000155840.9:c.1514+40325G>A ENSP00000155840.2:n.1514+40325G>A
ENST00000335475.5:c.1133+40325G>A ENSP00000334497.5:n.1133+40325G>A
NM_000218.2:c.1514+40325G>A , LRG_287t1:c.1514+40325G>A NP_000209.2:n.1514+40325G>A
NM_181798.1:c.1133+40325G>A , LRG_287t2:c.1133+40325G>A NP_861463.1:n.1133+40325G>A
NM_000218.3:c.1514+40325G>A MANE Select NP_000209.2:n.1514+40325G>A
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