Canonical Allele Identifier: CA63898741
Gene: CASP8 HGNC NCBI
FLACC1 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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