Canonical Allele Identifier: CA019415

Gene: EDARADD

Linked Data

• ClinVar Variation Id: 4188
• ClinVar RCV Id: RCV000004407
• dbSNP Id: rs74315309
• gnomAD v2: 1-236645755-G-A
• gnomAD v4: 1-236482455-G-A
• MyVariant Identifiers: chr1:g.236645755G>A (hg19) ; chr1:g.236482455G>A (hg38)
• PubMed: PMID:9245989 ; PMID:11780064 ; PMID:17354266 ; PMID:20301291

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482455G>A , CM000663.2:g.236482455G>A	GRCh38
NC_000001.10:g.236645755G>A , CM000663.1:g.236645755G>A	GRCh37
NC_000001.9:g.234712378G>A	NCBI36
NG_011566.1:g.93076G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334232.9:c.454G>A MANE Select	ENSP00000335076.4:p.Glu152Lys
ENST00000359362.6:c.424G>A	ENSP00000352320.4:p.Glu142Lys
ENST00000637660.1:c.388G>A	ENSP00000490347.1:p.Glu130Lys
ENST00000642595.1:c.236-9282G>A	ENSP00000494458.1:n.236-9282G>A
ENST00000334232.8:c.454G>A	ENSP00000335076.4:p.Glu152Lys
ENST00000359362.5:c.424G>A	ENSP00000352320.4:p.Glu142Lys
NM_080738.3:c.424G>A	NP_542776.1:p.Glu142Lys
NM_145861.2:c.454G>A	NP_665860.2:p.Glu152Lys
NM_080738.4:c.424G>A	NP_542776.1:p.Glu142Lys
NM_145861.4:c.454G>A MANE Select	NP_665860.2:p.Glu152Lys