Canonical Allele Identifier: CA6158398
Gene: FADD HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.70203540C>T
GRCh37 chr11:g.70049646C>T
gnomAD v2:
11:70049646 C / T
gnomAD v3:
11:70203540 C / T
gnomAD v4:
chr11-70203540-C-T
Joint Max Group AF 0.00001995 (NFE)
Genomes Max Group AF 0.00001918 (AFR)
Exomes Max Group AF 0.00001999 (NFE)
ClinVar RCV:
RCV001478780
ClinVar Variation:
1141343
dbSNP:
749690212
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.70203540C>T , CM000673.2:g.70203540C>T GRCh38
NC_000011.9:g.70049646C>T , CM000673.1:g.70049646C>T GRCh37
NC_000011.8:g.69727294C>T NCBI36
NG_027966.1:g.5378C>T , LRG_228:g.5378C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301838.5:c.81C>T MANE Select ENSP00000301838.5:p.Cys27=
ENST00000301838.4:c.81C>T ENSP00000301838.4:p.Cys27=
NM_003824.3:c.81C>T , LRG_228t1:c.81C>T NP_003815.1:p.Cys27=
NM_003824.4:c.81C>T MANE Select NP_003815.1:p.Cys27=
Search 100 bp 5'
Search 100 bp 3'