Canonical Allele Identifier: CA11094801

Gene: CASP8 FLACC1

Linked Data

• dbSNP Id: rs1035142
• gnomAD v2: 2-202153078-T-G
• gnomAD v3: 2-201288355-T-G
• gnomAD v4: 2-201288355-T-G
• MyVariant Identifiers: chr2:g.202153078T>G (hg19) ; chr2:g.201288355T>G (hg38)

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