Canonical Allele Identifier: CA11094801
Gene: CASP8 HGNC NCBI
FLACC1 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.201288355T>G
GRCh37 chr2:g.202153078T>G
gnomAD v2:
2:202153078 T / G
gnomAD v3:
2:201288355 T / G
gnomAD v4:
chr2-201288355-T-G
Joint Max Group AF 0.65529226 (EAS)
Genomes Max Group AF 0.66387589 (EAS)
Exomes Max Group AF 0.63958733 (EAS)
dbSNP:
1035142
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201288355T>G , CM000664.2:g.201288355T>G GRCh38
NC_000002.11:g.202153078T>G , CM000664.1:g.202153078T>G GRCh37
NC_000002.10:g.201861323T>G NCBI36
NG_007497.1:g.59898T>G , LRG_34:g.59898T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000696069.1:c.1259+3038T>G (CASP8) ENSP00000512371.1:n.1259+3038T>G
ENST00000392257.8:c.*300A>C (FLACC1) MANE Select ENSP00000376086.3:n.*300A>C
ENST00000286190.9:c.*300A>C (FLACC1) ENSP00000286190.5:n.*300A>C
NM_001127391.2:c.*300A>C (FLACC1) NP_001120863.1:n.*300A>C
NM_001289993.1:c.*300A>C (FLACC1) NP_001276922.1:n.*300A>C
NM_139163.3:c.*300A>C (FLACC1) NP_631902.2:n.*300A>C
NR_110620.1:n.2199A>C (FLACC1)
NM_001127391.3:c.*300A>C (FLACC1) MANE Select NP_001120863.1:n.*300A>C
NM_001289993.2:c.*300A>C (FLACC1) NP_001276922.1:n.*300A>C
NR_110620.2:n.2146A>C (FLACC1)
NM_139163.4:c.*300A>C (FLACC1) NP_631902.2:n.*300A>C
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