Canonical Allele Identifier: CA008728
Gene: KCNQ1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.2583441G>A
GRCh37 chr11:g.2604671G>A
Revel Score:
ENST00000155840 (MANE Select) 0.781
ENST00000335475 0.781
gnomAD v4:
chr11-2583441-G-A
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.2583441G>A , CM000673.2:g.2583441G>A GRCh38
NC_000011.9:g.2604671G>A , CM000673.1:g.2604671G>A GRCh37
NC_000011.8:g.2561247G>A NCBI36
NG_008935.1:g.143451G>A , LRG_287:g.143451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000496887.7:c.667G>A ENSP00000434560.2:p.Val223Ile
ENST00000646564.2:c.484G>A ENSP00000495806.2:p.Val162Ile
ENST00000155840.12:c.928G>A MANE Select ENSP00000155840.2:p.Val310Ile
ENST00000335475.6:c.547G>A ENSP00000334497.5:p.Val183Ile
ENST00000646564.1:c.130G>A ENSP00000495806.1:p.Val44Ile
ENST00000155840.9:c.928G>A ENSP00000155840.2:p.Val310Ile
ENST00000335475.5:c.547G>A ENSP00000334497.5:p.Val183Ile
NM_000218.2:c.928G>A , LRG_287t1:c.928G>A NP_000209.2:p.Val310Ile
NM_181798.1:c.547G>A , LRG_287t2:c.547G>A NP_861463.1:p.Val183Ile
NM_000218.3:c.928G>A MANE Select NP_000209.2:p.Val310Ile
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