Canonical Allele Identifier: CA1470011
Gene: EDARADD HGNC NCBI
COSMIC:
COSN7209306
COSN19690013 (not active)
MyVariant.info:
GRCh38 chr1:g.236427379T>C
GRCh37 chr1:g.236590679T>C
gnomAD v2:
1:236590679 T / C
gnomAD v3:
1:236427379 T / C
gnomAD v4:
chr1-236427379-T-C
Joint Max Group AF 0.00193077 (SAS)
Genomes Max Group AF 0.00141128 (AFR)
Exomes Max Group AF 0.0019631 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236427379T>C , CM000663.2:g.236427379T>C GRCh38
NC_000001.10:g.236590679T>C , CM000663.1:g.236590679T>C GRCh37
NC_000001.9:g.234657302T>C NCBI36
NG_011566.1:g.38000T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.161-13T>C MANE Select ENSP00000335076.4:n.161-13T>C
ENST00000359362.6:c.131-13T>C ENSP00000352320.4:n.131-13T>C
ENST00000637660.1:c.95-13T>C ENSP00000490347.1:n.95-13T>C
ENST00000642595.1:c.131-13T>C ENSP00000494458.1:n.131-13T>C
ENST00000334232.8:c.161-13T>C ENSP00000335076.4:n.161-13T>C
ENST00000359362.5:c.131-13T>C ENSP00000352320.4:n.131-13T>C
ENST00000439430.5:c.95-13T>C ENSP00000405815.1:n.95-13T>C
NM_080738.3:c.131-13T>C NP_542776.1:n.131-13T>C
NM_145861.2:c.161-13T>C NP_665860.2:n.161-13T>C
NM_080738.4:c.131-13T>C NP_542776.1:n.131-13T>C
NM_145861.4:c.161-13T>C MANE Select NP_665860.2:n.161-13T>C
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