Canonical Allele Identifier: CA1470075

Gene: EDARADD

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)

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=