Canonical Allele Identifier: CA1470064

Gene: EDARADD

Linked Data

• ClinVar Variation Id: 262601
• ClinVar RCV Id: RCV000252874 ; RCV000534755 ; RCV001102398 ; RCV001705378
• dbSNP Id: rs114632254
• ExAC: 1:236645609 C / T
• gnomAD v2: 1-236645609-C-T
• gnomAD v3: 1-236482309-C-T
• gnomAD v4: 1-236482309-C-T
• MyVariant Identifiers: chr1:g.236645609C>T (hg19) ; chr1:g.236482309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482309C>T , CM000663.2:g.236482309C>T	GRCh38
NC_000001.10:g.236645609C>T , CM000663.1:g.236645609C>T	GRCh37
NC_000001.9:g.234712232C>T	NCBI36
NG_011566.1:g.92930C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.308C>T MANE Select	ENSP00000335076.4:p.Ser103Phe
ENST00000359362.6:c.278C>T	ENSP00000352320.4:p.Ser93Phe
ENST00000637660.1:c.242C>T	ENSP00000490347.1:p.Ser81Phe
ENST00000642595.1:c.236-9428C>T	ENSP00000494458.1:n.236-9428C>T
ENST00000334232.8:c.308C>T	ENSP00000335076.4:p.Ser103Phe
ENST00000359362.5:c.278C>T	ENSP00000352320.4:p.Ser93Phe
ENST00000439430.5:c.242C>T	ENSP00000405815.1:p.Ser81Phe
NM_080738.3:c.278C>T	NP_542776.1:p.Ser93Phe
NM_145861.2:c.308C>T	NP_665860.2:p.Ser103Phe
NM_080738.4:c.278C>T	NP_542776.1:p.Ser93Phe
NM_145861.4:c.308C>T MANE Select	NP_665860.2:p.Ser103Phe