Canonical Allele Identifier: CA1470075
Gene: EDARADD HGNC NCBI

Linked Data

ClinVar Variation Id: 540294
ClinVar RCV Id: RCV000650286 RCV001102400 RCV003953175
dbSNP Id: rs139996586
ExAC: 1:236645694 G / A
gnomAD v2: 1-236645694-G-A
gnomAD v3: 1-236482394-G-A
gnomAD v4: 1-236482394-G-A
MyVariant Identifiers: chr1:g.236645694G>A (hg19) chr1:g.236482394G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.236482394G>A , CM000663.2:g.236482394G>A GRCh38
NC_000001.10:g.236645694G>A , CM000663.1:g.236645694G>A GRCh37
NC_000001.9:g.234712317G>A NCBI36
NG_011566.1:g.93015G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000334232.9:c.393G>A MANE Select ENSP00000335076.4:p.Pro131=
ENST00000359362.6:c.363G>A ENSP00000352320.4:p.Pro121=
ENST00000637660.1:c.327G>A ENSP00000490347.1:p.Pro109=
ENST00000642595.1:c.236-9343G>A ENSP00000494458.1:n.236-9343G>A
ENST00000334232.8:c.393G>A ENSP00000335076.4:p.Pro131=
ENST00000359362.5:c.363G>A ENSP00000352320.4:p.Pro121=
NM_080738.3:c.363G>A NP_542776.1:p.Pro121=
NM_145861.2:c.393G>A NP_665860.2:p.Pro131=
NM_080738.4:c.363G>A NP_542776.1:p.Pro121=
NM_145861.4:c.393G>A MANE Select NP_665860.2:p.Pro131=
Search 100 bp 5'
Search 100 bp 3'