Canonical Allele Identifier: CA1469956
Gene: EDARADD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.236409269A>G
GRCh37 chr1:g.236572569A>G
Revel Score:
ENST00000439430 0.083
ENST00000334232 (MANE Select) 0.083
ENST00000359362 0.083
gnomAD v2:
1:236572569 A / G
gnomAD v4:
chr1-236409269-A-G
Joint Max Group AF 0.0002061 (EAS)
Exomes Max Group AF 0.00023318 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236409269A>G , CM000663.2:g.236409269A>G GRCh38
NC_000001.10:g.236572569A>G , CM000663.1:g.236572569A>G GRCh37
NC_000001.9:g.234639192A>G NCBI36
NG_011566.1:g.19890A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.115A>G MANE Select ENSP00000335076.4:p.Asn39Asp
ENST00000359362.6:c.85A>G ENSP00000352320.4:p.Asn29Asp
ENST00000637660.1:c.49A>G ENSP00000490347.1:p.Asn17Asp
ENST00000642595.1:c.85A>G ENSP00000494458.1:p.Asn29Asp
ENST00000334232.8:c.115A>G ENSP00000335076.4:p.Asn39Asp
ENST00000359362.5:c.85A>G ENSP00000352320.4:p.Asn29Asp
ENST00000439430.5:c.49A>G ENSP00000405815.1:p.Asn17Asp
NM_080738.3:c.85A>G NP_542776.1:p.Asn29Asp
NM_145861.2:c.115A>G NP_665860.2:p.Asn39Asp
NM_080738.4:c.85A>G NP_542776.1:p.Asn29Asp
NM_145861.4:c.115A>G MANE Select NP_665860.2:p.Asn39Asp
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