Canonical Allele Identifier: CA019395

Gene: EDARADD

Linked Data

• ClinVar Variation Id: 4189
• ClinVar RCV Id: RCV000004408 ; RCV000055985
• dbSNP Id: rs121908116
• MyVariant Identifiers: chr1:g.236645666T>G (hg19) ; chr1:g.236482366T>G (hg38)
• PubMed: PMID:17354266 ; PMID:20301291

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482366T>G , CM000663.2:g.236482366T>G	GRCh38
NC_000001.10:g.236645666T>G , CM000663.1:g.236645666T>G	GRCh37
NC_000001.9:g.234712289T>G	NCBI36
NG_011566.1:g.92987T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.365T>G MANE Select	ENSP00000335076.4:p.Leu122Arg
ENST00000359362.6:c.335T>G	ENSP00000352320.4:p.Leu112Arg
ENST00000637660.1:c.299T>G	ENSP00000490347.1:p.Leu100Arg
ENST00000642595.1:c.236-9371T>G	ENSP00000494458.1:n.236-9371T>G
ENST00000334232.8:c.365T>G	ENSP00000335076.4:p.Leu122Arg
ENST00000359362.5:c.335T>G	ENSP00000352320.4:p.Leu112Arg
NM_080738.3:c.335T>G	NP_542776.1:p.Leu112Arg
NM_145861.2:c.365T>G	NP_665860.2:p.Leu122Arg
NM_080738.4:c.335T>G	NP_542776.1:p.Leu112Arg
NM_145861.4:c.365T>G MANE Select	NP_665860.2:p.Leu122Arg