Canonical Allele Identifier: CA424029792

Gene: EDARADD

Linked Data

• dbSNP Id: rs1486687983
• gnomAD v2: 1-236645607-T-C
• gnomAD v3: 1-236482307-T-C
• gnomAD v4: 1-236482307-T-C
• MyVariant Identifiers: chr1:g.236645607T>C (hg19) ; chr1:g.236482307T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.236482307T>C , CM000663.2:g.236482307T>C	GRCh38
NC_000001.10:g.236645607T>C , CM000663.1:g.236645607T>C	GRCh37
NC_000001.9:g.234712230T>C	NCBI36
NG_011566.1:g.92928T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000334232.9:c.306T>C MANE Select	ENSP00000335076.4:p.Cys102=
ENST00000359362.6:c.276T>C	ENSP00000352320.4:p.Cys92=
ENST00000637660.1:c.240T>C	ENSP00000490347.1:p.Cys80=
ENST00000642595.1:c.236-9430T>C	ENSP00000494458.1:n.236-9430T>C
ENST00000334232.8:c.306T>C	ENSP00000335076.4:p.Cys102=
ENST00000359362.5:c.276T>C	ENSP00000352320.4:p.Cys92=
ENST00000439430.5:c.240T>C	ENSP00000405815.1:p.Cys80=
NM_080738.3:c.276T>C	NP_542776.1:p.Cys92=
NM_145861.2:c.306T>C	NP_665860.2:p.Cys102=
NM_080738.4:c.276T>C	NP_542776.1:p.Cys92=
NM_145861.4:c.306T>C MANE Select	NP_665860.2:p.Cys102=