Canonical Allele Identifier: CA345353855

Gene: EDARADD

Linked Data

• gnomAD v4: 1-236482407-G-A
• MyVariant Identifiers: chr1:g.236645707G>A (hg19) ; chr1:g.236482407G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482407G>A , CM000663.2:g.236482407G>A	GRCh38
NC_000001.10:g.236645707G>A , CM000663.1:g.236645707G>A	GRCh37
NC_000001.9:g.234712330G>A	NCBI36
NG_011566.1:g.93028G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000334232.9:c.406G>A MANE Select	ENSP00000335076.4:p.Val136Met
ENST00000359362.6:c.376G>A	ENSP00000352320.4:p.Val126Met
ENST00000637660.1:c.340G>A	ENSP00000490347.1:p.Val114Met
ENST00000642595.1:c.236-9330G>A	ENSP00000494458.1:n.236-9330G>A
ENST00000334232.8:c.406G>A	ENSP00000335076.4:p.Val136Met
ENST00000359362.5:c.376G>A	ENSP00000352320.4:p.Val126Met
NM_080738.3:c.376G>A	NP_542776.1:p.Val126Met
NM_145861.2:c.406G>A	NP_665860.2:p.Val136Met
NM_080738.4:c.376G>A	NP_542776.1:p.Val126Met
NM_145861.4:c.406G>A MANE Select	NP_665860.2:p.Val136Met