Canonical Allele Identifier: CA10609432
Gene: EDARADD HGNC NCBI
ENO1P1 HGNC NCBI

Linked Data

ClinVar Variation Id: 296482
ClinVar RCV Id: RCV000307413 RCV001098847
dbSNP Id: rs878900513
gnomAD v2: 1-236647758-C-T
gnomAD v3: 1-236484458-C-T
gnomAD v4: 1-236484458-C-T
MyVariant Identifiers: chr1:g.236647758C>T (hg19) chr1:g.236484458C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236484458C>T , CM000663.2:g.236484458C>T GRCh38
NC_000001.10:g.236647758C>T , CM000663.1:g.236647758C>T GRCh37
NC_000001.9:g.234714381C>T NCBI36
NG_011566.1:g.95079C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.*1809C>T (EDARADD) MANE Select ENSP00000335076.4:n.*1809C>T
ENST00000359362.6:c.*1809C>T (EDARADD) ENSP00000352320.4:n.*1809C>T
ENST00000637660.1:c.*1809C>T (EDARADD) ENSP00000490347.1:n.*1809C>T
ENST00000642595.1:c.236-7279C>T (EDARADD) ENSP00000494458.1:n.236-7279C>T
ENST00000359362.5:c.*1809C>T (EDARADD) ENSP00000352320.4:n.*1809C>T
ENST00000366587.4:n.1294C>T (ENO1P1)
NM_080738.3:c.*1809C>T (EDARADD) NP_542776.1:n.*1809C>T
NM_145861.2:c.*1809C>T (EDARADD) NP_665860.2:n.*1809C>T
NM_080738.4:c.*1809C>T (EDARADD) NP_542776.1:n.*1809C>T
NM_145861.4:c.*1809C>T (EDARADD) MANE Select NP_665860.2:n.*1809C>T
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