Canonical Allele Identifier: CA10610446
Gene: EDARADD HGNC NCBI
ENO1P1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.236483616A>G
GRCh37 chr1:g.236646916A>G
gnomAD v2:
1:236646916 A / G
gnomAD v3:
1:236483616 A / G
gnomAD v4:
chr1-236483616-A-G
Joint Max Group AF 0.00084688 (AFR)
Genomes Max Group AF 0.0006849 (AFR)
Exomes Max Group AF 0.00089182 (AFR)
ClinVar Allele:
281333
ClinVar RCV:
RCV000384811
RCV001100553
ClinVar Variation:
296469
dbSNP:
193138062
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236483616A>G , CM000663.2:g.236483616A>G GRCh38
NC_000001.10:g.236646916A>G , CM000663.1:g.236646916A>G GRCh37
NC_000001.9:g.234713539A>G NCBI36
NG_011566.1:g.94237A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.*967A>G (EDARADD) MANE Select ENSP00000335076.4:n.*967A>G
ENST00000359362.6:c.*967A>G (EDARADD) ENSP00000352320.4:n.*967A>G
ENST00000637660.1:c.*967A>G (EDARADD) ENSP00000490347.1:n.*967A>G
ENST00000642595.1:c.236-8121A>G (EDARADD) ENSP00000494458.1:n.236-8121A>G
ENST00000359362.5:c.*967A>G (EDARADD) ENSP00000352320.4:n.*967A>G
ENST00000366587.4:n.452A>G (ENO1P1)
NM_080738.3:c.*967A>G (EDARADD) NP_542776.1:n.*967A>G
NM_145861.2:c.*967A>G (EDARADD) NP_665860.2:n.*967A>G
NM_080738.4:c.*967A>G (EDARADD) NP_542776.1:n.*967A>G
NM_145861.4:c.*967A>G (EDARADD) MANE Select NP_665860.2:n.*967A>G
Search 100 bp 5'
Search 100 bp 3'