Canonical Allele Identifier: CA10610456
Gene: EDARADD HGNC NCBI
ENO1P1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.236484087C>T
GRCh37 chr1:g.236647387C>T
gnomAD v2:
1:236647387 C / T
gnomAD v3:
1:236484087 C / T
gnomAD v4:
chr1-236484087-C-T
Joint Max Group AF 0.00372568 (NFE)
Genomes Max Group AF 0.00351082 (NFE)
Exomes Max Group AF 0.00371878 (NFE)
ClinVar RCV:
RCV000379160
RCV001102501
ClinVar Variation:
296472
dbSNP:
201710490
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236484087C>T , CM000663.2:g.236484087C>T GRCh38
NC_000001.10:g.236647387C>T , CM000663.1:g.236647387C>T GRCh37
NC_000001.9:g.234714010C>T NCBI36
NG_011566.1:g.94708C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.*1438C>T (EDARADD) MANE Select ENSP00000335076.4:n.*1438C>T
ENST00000359362.6:c.*1438C>T (EDARADD) ENSP00000352320.4:n.*1438C>T
ENST00000637660.1:c.*1438C>T (EDARADD) ENSP00000490347.1:n.*1438C>T
ENST00000642595.1:c.236-7650C>T (EDARADD) ENSP00000494458.1:n.236-7650C>T
ENST00000359362.5:c.*1438C>T (EDARADD) ENSP00000352320.4:n.*1438C>T
ENST00000366587.4:n.923C>T (ENO1P1)
NM_080738.3:c.*1438C>T (EDARADD) NP_542776.1:n.*1438C>T
NM_145861.2:c.*1438C>T (EDARADD) NP_665860.2:n.*1438C>T
NM_080738.4:c.*1438C>T (EDARADD) NP_542776.1:n.*1438C>T
NM_145861.4:c.*1438C>T (EDARADD) MANE Select NP_665860.2:n.*1438C>T
Search 100 bp 5'
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