Canonical Allele Identifier: CA1469898

Gene: EDARADD

Linked Data

• ClinVar Variation Id: 262598
• ClinVar RCV Id: RCV000252386 ; RCV000353307 ; RCV001100438 ; RCV001683137
• dbSNP Id: rs79233817
• ExAC: 1:236557742 G / A
• gnomAD v2: 1-236557742-G-A
• gnomAD v3: 1-236394442-G-A
• gnomAD v4: 1-236394442-G-A
• MyVariant Identifiers: chr1:g.236557742G>A (hg19) ; chr1:g.236394442G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236394442G>A , CM000663.2:g.236394442G>A	GRCh38
NC_000001.10:g.236557742G>A , CM000663.1:g.236557742G>A	GRCh37
NC_000001.9:g.234624365G>A	NCBI36
NG_011566.1:g.5063G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334232.9:c.-3G>A MANE Select	ENSP00000335076.4:n.-3G>A
ENST00000637660.1:c.-5-14774G>A	ENSP00000490347.1:n.-5-14774G>A
ENST00000334232.8:c.-3G>A	ENSP00000335076.4:n.-3G>A
ENST00000439430.5:c.-5-14774G>A	ENSP00000405815.1:n.-5-14774G>A
NM_145861.2:c.-3G>A	NP_665860.2:n.-3G>A
NM_145861.4:c.-3G>A MANE Select	NP_665860.2:n.-3G>A