Canonical Allele Identifier: CA345353480

Gene: EDARADD

Linked Data

• dbSNP Id: rs886046186
• gnomAD v2: 1-236645603-C-G
• gnomAD v4: 1-236482303-C-G
• MyVariant Identifiers: chr1:g.236645603C>G (hg19) ; chr1:g.236482303C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482303C>G , CM000663.2:g.236482303C>G	GRCh38
NC_000001.10:g.236645603C>G , CM000663.1:g.236645603C>G	GRCh37
NC_000001.9:g.234712226C>G	NCBI36
NG_011566.1:g.92924C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.302C>G MANE Select	ENSP00000335076.4:p.Thr101Ser
ENST00000359362.6:c.272C>G	ENSP00000352320.4:p.Thr91Ser
ENST00000637660.1:c.236C>G	ENSP00000490347.1:p.Thr79Ser
ENST00000642595.1:c.236-9434C>G	ENSP00000494458.1:n.236-9434C>G
ENST00000334232.8:c.302C>G	ENSP00000335076.4:p.Thr101Ser
ENST00000359362.5:c.272C>G	ENSP00000352320.4:p.Thr91Ser
ENST00000439430.5:c.236C>G	ENSP00000405815.1:p.Thr79Ser
NM_080738.3:c.272C>G	NP_542776.1:p.Thr91Ser
NM_145861.2:c.302C>G	NP_665860.2:p.Thr101Ser
NM_080738.4:c.272C>G	NP_542776.1:p.Thr91Ser
NM_145861.4:c.302C>G MANE Select	NP_665860.2:p.Thr101Ser