Canonical Allele Identifier: CA16616877

Gene: CFAP418

Linked Data

• ClinVar Variation Id: 417787
• ClinVar RCV Id: RCV000477709
• dbSNP Id: rs1060505042
• gnomAD v3: 8-95260534-T-G
• gnomAD v4: 8-95260534-T-G
• MyVariant Identifiers: chr8:g.96272762T>G (hg19) ; chr8:g.95260534T>G (hg38)
• PubMed: PMID:25802487

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95260534T>G , CM000670.2:g.95260534T>G	GRCh38
NC_000008.10:g.96272762T>G , CM000670.1:g.96272762T>G	GRCh37
NC_000008.9:g.96341938T>G	NCBI36
NG_032804.1:g.13701A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.244-2A>C MANE Select	ENSP00000286688.5:n.244-2A>C
ENST00000286688.5:c.244-2A>C	ENSP00000286688.5:n.244-2A>C
NM_177965.3:c.244-2A>C	NP_808880.1:n.244-2A>C
XM_005250799.2:c.583-2A>C	XP_005250856.2:n.583-2A>C
NM_001363260.1:c.244-2A>C	NP_001350189.1:n.244-2A>C
NM_177965.4:c.244-2A>C MANE Select	NP_808880.1:n.244-2A>C