Canonical Allele Identifier: CA1469907
Gene: EDARADD HGNC NCBI
COSMIC:
COSM3746871 (not active)
MyVariant.info:
GRCh38 chr1:g.236394471G>A
GRCh37 chr1:g.236557771G>A
Revel Score:
ENST00000334232 (MANE Select) 0.132
gnomAD v2:
1:236557771 G / A
gnomAD v3:
1:236394471 G / A
gnomAD v4:
chr1-236394471-G-A
Joint Max Group AF 0.93393931 (EAS)
Genomes Max Group AF 0.89699998 (EAS)
Exomes Max Group AF 0.93641283 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236394471G>A , CM000663.2:g.236394471G>A GRCh38
NC_000001.10:g.236557771G>A , CM000663.1:g.236557771G>A GRCh37
NC_000001.9:g.234624394G>A NCBI36
NG_011566.1:g.5092G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.27G>A MANE Select ENSP00000335076.4:p.Met9Ile
ENST00000637660.1:c.-5-14745G>A ENSP00000490347.1:n.-5-14745G>A
ENST00000334232.8:c.27G>A ENSP00000335076.4:p.Met9Ile
ENST00000439430.5:c.-5-14745G>A ENSP00000405815.1:n.-5-14745G>A
NM_145861.2:c.27G>A NP_665860.2:p.Met9Ile
NM_145861.4:c.27G>A MANE Select NP_665860.2:p.Met9Ile
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