Canonical Allele Identifier: CA4815269

Gene: CFAP418 CFAP418-AS1

Linked Data

• ClinVar Variation Id: 290835
• ClinVar RCV Id: RCV000322042 ; RCV000883271 ; RCV001169700 ; RCV001169701
• dbSNP Id: rs115853053
• ExAC: 8:96281292 C / G
• gnomAD v2: 8-96281292-C-G
• gnomAD v3: 8-95269064-C-G
• gnomAD v4: 8-95269064-C-G
• MyVariant Identifiers: chr8:g.96281292C>G (hg19) ; chr8:g.95269064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95269064C>G , CM000670.2:g.95269064C>G	GRCh38
NC_000008.10:g.96281292C>G , CM000670.1:g.96281292C>G	GRCh37
NC_000008.9:g.96350468C>G	NCBI36
NG_032804.1:g.5171G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.126G>C (CFAP418) MANE Select	ENSP00000286688.5:p.Arg42=
ENST00000286688.5:c.126G>C (CFAP418)	ENSP00000286688.5:p.Arg42=
NM_177965.3:c.126G>C (CFAP418)	NP_808880.1:p.Arg42=
NR_038201.1:n.55+174C>G (CFAP418-AS1)
NR_038202.1:n.55+174C>G (CFAP418-AS1)
NR_038203.1:n.55+174C>G (CFAP418-AS1)
NR_038204.1:n.55+174C>G (CFAP418-AS1)
NR_038205.1:n.55+174C>G (CFAP418-AS1)
NR_038206.1:n.55+174C>G (CFAP418-AS1)
NR_038207.1:n.55+174C>G (CFAP418-AS1)
NR_038208.1:n.55+174C>G (CFAP418-AS1)
NR_038209.1:n.55+174C>G (CFAP418-AS1)
XM_005250799.2:c.465G>C (CFAP418)	XP_005250856.2:p.Arg155=
NM_001363260.1:c.126G>C (CFAP418)	NP_001350189.1:p.Arg42=
NM_177965.4:c.126G>C (CFAP418) MANE Select	NP_808880.1:p.Arg42=