Canonical Allele Identifier: CA345353498

Gene: EDARADD

Linked Data

• dbSNP Id: rs1464910894
• gnomAD v3: 1-236482312-C-G
• gnomAD v4: 1-236482312-C-G
• MyVariant Identifiers: chr1:g.236645612C>G (hg19) ; chr1:g.236482312C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482312C>G , CM000663.2:g.236482312C>G	GRCh38
NC_000001.10:g.236645612C>G , CM000663.1:g.236645612C>G	GRCh37
NC_000001.9:g.234712235C>G	NCBI36
NG_011566.1:g.92933C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.311C>G MANE Select	ENSP00000335076.4:p.Ser104Cys
ENST00000359362.6:c.281C>G	ENSP00000352320.4:p.Ser94Cys
ENST00000637660.1:c.245C>G	ENSP00000490347.1:p.Ser82Cys
ENST00000642595.1:c.236-9425C>G	ENSP00000494458.1:n.236-9425C>G
ENST00000334232.8:c.311C>G	ENSP00000335076.4:p.Ser104Cys
ENST00000359362.5:c.281C>G	ENSP00000352320.4:p.Ser94Cys
ENST00000439430.5:c.245C>G	ENSP00000405815.1:p.Ser82Cys
NM_080738.3:c.281C>G	NP_542776.1:p.Ser94Cys
NM_145861.2:c.311C>G	NP_665860.2:p.Ser104Cys
NM_080738.4:c.281C>G	NP_542776.1:p.Ser94Cys
NM_145861.4:c.311C>G MANE Select	NP_665860.2:p.Ser104Cys