Canonical Allele Identifier: CA345353499

Gene: EDARADD

Linked Data

• gnomAD v4: 1-236482312-C-T
• MyVariant Identifiers: chr1:g.236645612C>T (hg19) ; chr1:g.236482312C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.311C>T MANE Select	ENSP00000335076.4:p.Ser104Phe
ENST00000359362.6:c.281C>T	ENSP00000352320.4:p.Ser94Phe
ENST00000637660.1:c.245C>T	ENSP00000490347.1:p.Ser82Phe
ENST00000642595.1:c.236-9425C>T	ENSP00000494458.1:n.236-9425C>T
ENST00000334232.8:c.311C>T	ENSP00000335076.4:p.Ser104Phe
ENST00000359362.5:c.281C>T	ENSP00000352320.4:p.Ser94Phe
ENST00000439430.5:c.245C>T	ENSP00000405815.1:p.Ser82Phe
NM_080738.3:c.281C>T	NP_542776.1:p.Ser94Phe
NM_145861.2:c.311C>T	NP_665860.2:p.Ser104Phe
NM_080738.4:c.281C>T	NP_542776.1:p.Ser94Phe
NM_145861.4:c.311C>T MANE Select	NP_665860.2:p.Ser104Phe