Canonical Allele Identifier: CA1321001538
Gene: CASP8 HGNC NCBI
FLACC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.201298088A>C , CM000664.2:g.201298088A>C GRCh38
NC_000002.11:g.202162811A>C , CM000664.1:g.202162811A>C GRCh37
NC_000002.10:g.201871056A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000696069.1:c.1259+12771A>C (CASP8) ENSP00000512371.1:n.1259+12771A>C
ENST00000392257.8:c.942+1150T>G (FLACC1) MANE Select ENSP00000376086.3:n.942+1150T>G
ENST00000286190.9:c.942+1150T>G (FLACC1) ENSP00000286190.5:n.942+1150T>G
ENST00000392257.7:c.942+1150T>G (FLACC1) ENSP00000376086.3:n.942+1150T>G
ENST00000405148.6:c.942+1150T>G (FLACC1) ENSP00000385098.2:n.942+1150T>G
ENST00000415745.5:c.266+1150T>G (FLACC1)
ENST00000439709.5:c.942+1150T>G (FLACC1) ENSP00000412073.1:n.942+1150T>G
ENST00000494171.5:n.1444+1150T>G (FLACC1)
NM_001127391.2:c.942+1150T>G (FLACC1) NP_001120863.1:n.942+1150T>G
NM_001289993.1:c.942+1150T>G (FLACC1) NP_001276922.1:n.942+1150T>G
NM_139163.3:c.942+1150T>G (FLACC1) NP_631902.2:n.942+1150T>G
NR_110620.1:n.1498+1150T>G (FLACC1)
XM_011510606.1:c.942+1150T>G (FLACC1) XP_011508908.1:n.942+1150T>G
XM_011510607.1:c.942+1150T>G (FLACC1) XP_011508909.1:n.942+1150T>G
XM_011510608.1:c.942+1150T>G (FLACC1) XP_011508910.1:n.942+1150T>G
XM_011510609.1:c.942+1150T>G (FLACC1) XP_011508911.1:n.942+1150T>G
XM_011510610.1:c.633+1150T>G (FLACC1) XP_011508912.1:n.633+1150T>G
XM_011510611.1:c.942+1150T>G (FLACC1) XP_011508913.1:n.942+1150T>G
XM_011510612.1:c.315+1150T>G (FLACC1) XP_011508914.1:n.315+1150T>G
XM_011510606.3:c.942+1150T>G (FLACC1) XP_011508908.1:n.942+1150T>G
XM_011510610.3:c.633+1150T>G (FLACC1) XP_011508912.1:n.633+1150T>G
XM_011510612.3:c.315+1150T>G (FLACC1) XP_011508914.1:n.315+1150T>G
XM_017003361.2:c.942+1150T>G (FLACC1) XP_016858850.1:n.942+1150T>G
XM_017003362.2:c.315+1150T>G (FLACC1) XP_016858851.1:n.315+1150T>G
XM_024452696.1:c.942+1150T>G (FLACC1) XP_024308464.1:n.942+1150T>G
XM_024452697.1:c.942+1150T>G (FLACC1) XP_024308465.1:n.942+1150T>G
NM_001127391.3:c.942+1150T>G (FLACC1) MANE Select NP_001120863.1:n.942+1150T>G
NM_001289993.2:c.942+1150T>G (FLACC1) NP_001276922.1:n.942+1150T>G
NR_110620.2:n.1445+1150T>G (FLACC1)
NM_139163.4:c.942+1150T>G (FLACC1) NP_631902.2:n.942+1150T>G