Canonical Allele Identifier: CA019415
Gene: EDARADD HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.236482455G>A
GRCh37 chr1:g.236645755G>A
Revel Score:
ENST00000334232 (MANE Select) 0.491
ENST00000359362 0.491
gnomAD v2:
1:236645755 G / A
gnomAD v4:
chr1-236482455-G-A
Joint Max Group AF 0.00000359 (NFE)
Exomes Max Group AF 0.00000381 (NFE)
ClinVar RCV:
RCV000004407
RCV001729334
ClinVar Variation:
4188
dbSNP:
74315309
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236482455G>A , CM000663.2:g.236482455G>A GRCh38
NC_000001.10:g.236645755G>A , CM000663.1:g.236645755G>A GRCh37
NC_000001.9:g.234712378G>A NCBI36
NG_011566.1:g.93076G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.454G>A MANE Select ENSP00000335076.4:p.Glu152Lys
ENST00000359362.6:c.424G>A ENSP00000352320.4:p.Glu142Lys
ENST00000637660.1:c.388G>A ENSP00000490347.1:p.Glu130Lys
ENST00000642595.1:c.236-9282G>A ENSP00000494458.1:n.236-9282G>A
ENST00000334232.8:c.454G>A ENSP00000335076.4:p.Glu152Lys
ENST00000359362.5:c.424G>A ENSP00000352320.4:p.Glu142Lys
NM_080738.3:c.424G>A NP_542776.1:p.Glu142Lys
NM_145861.2:c.454G>A NP_665860.2:p.Glu152Lys
NM_080738.4:c.424G>A NP_542776.1:p.Glu142Lys
NM_145861.4:c.454G>A MANE Select NP_665860.2:p.Glu152Lys
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