Canonical Allele Identifier: CA1470011

Gene: EDARADD

Linked Data

• ClinVar Variation Id: 262599
• ClinVar RCV Id: RCV000244576 ; RCV000293938 ; RCV001100444 ; RCV002518659
• dbSNP Id: rs184596437
• ExAC: 1:236590679 T / C
• gnomAD v2: 1-236590679-T-C
• gnomAD v3: 1-236427379-T-C
• gnomAD v4: 1-236427379-T-C
• COSMIC: COSN7209306
• MyVariant Identifiers: chr1:g.236590679T>C (hg19) ; chr1:g.236427379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236427379T>C , CM000663.2:g.236427379T>C	GRCh38
NC_000001.10:g.236590679T>C , CM000663.1:g.236590679T>C	GRCh37
NC_000001.9:g.234657302T>C	NCBI36
NG_011566.1:g.38000T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.161-13T>C MANE Select	ENSP00000335076.4:n.161-13T>C
ENST00000359362.6:c.131-13T>C	ENSP00000352320.4:n.131-13T>C
ENST00000637660.1:c.95-13T>C	ENSP00000490347.1:n.95-13T>C
ENST00000642595.1:c.131-13T>C	ENSP00000494458.1:n.131-13T>C
ENST00000334232.8:c.161-13T>C	ENSP00000335076.4:n.161-13T>C
ENST00000359362.5:c.131-13T>C	ENSP00000352320.4:n.131-13T>C
ENST00000439430.5:c.95-13T>C	ENSP00000405815.1:n.95-13T>C
NM_080738.3:c.131-13T>C	NP_542776.1:n.131-13T>C
NM_145861.2:c.161-13T>C	NP_665860.2:n.161-13T>C
NM_080738.4:c.131-13T>C	NP_542776.1:n.131-13T>C
NM_145861.4:c.161-13T>C MANE Select	NP_665860.2:n.161-13T>C