Canonical Allele Identifier: CA371837725
Gene: CFAP418 HGNC NCBI
CFAP418-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 417790
ClinVar RCV Id: RCV000477722 RCV001701020
dbSNP Id: rs1085307121
MyVariant Identifiers: chr8:g.96281261A>G (hg19) chr8:g.95269033A>G (hg38)
PubMed: PMID:26865426
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Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95269033A>G , CM000670.2:g.95269033A>G GRCh38
NC_000008.10:g.96281261A>G , CM000670.1:g.96281261A>G GRCh37
NC_000008.9:g.96350437A>G NCBI36
NG_032804.1:g.5202T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.155+2T>C (CFAP418) MANE Select ENSP00000286688.5:n.155+2T>C
ENST00000286688.5:c.155+2T>C (CFAP418) ENSP00000286688.5:n.155+2T>C
NM_177965.3:c.155+2T>C (CFAP418) NP_808880.1:n.155+2T>C
NR_038201.1:n.55+143A>G (CFAP418-AS1)
NR_038202.1:n.55+143A>G (CFAP418-AS1)
NR_038203.1:n.55+143A>G (CFAP418-AS1)
NR_038204.1:n.55+143A>G (CFAP418-AS1)
NR_038205.1:n.55+143A>G (CFAP418-AS1)
NR_038206.1:n.55+143A>G (CFAP418-AS1)
NR_038207.1:n.55+143A>G (CFAP418-AS1)
NR_038208.1:n.55+143A>G (CFAP418-AS1)
NR_038209.1:n.55+143A>G (CFAP418-AS1)
XM_005250799.2:c.494+2T>C (CFAP418) XP_005250856.2:n.494+2T>C
NM_001363260.1:c.155+2T>C (CFAP418) NP_001350189.1:n.155+2T>C
NM_177965.4:c.155+2T>C (CFAP418) MANE Select NP_808880.1:n.155+2T>C
Search 100 bp 5'
Search 100 bp 3'