Canonical Allele Identifier: CA260013

Gene: CFAP418

Linked Data

• ClinVar Variation Id: 31194
• ClinVar RCV Id: RCV000024193 ; RCV000477682 ; RCV001257837 ; RCV001002908 ; RCV002228055
• dbSNP Id: rs387907136
• ExAC: 8:96259940 G / A
• gnomAD v2: 8-96259940-G-A
• gnomAD v3: 8-95247712-G-A
• gnomAD v4: 8-95247712-G-A
• MyVariant Identifiers: chr8:g.96259940G>A (hg19) ; chr8:g.95247712G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95247712G>A , CM000670.2:g.95247712G>A	GRCh38
NC_000008.10:g.96259940G>A , CM000670.1:g.96259940G>A	GRCh37
NC_000008.9:g.96329116G>A	NCBI36
NG_032804.1:g.26523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.529C>T MANE Select	ENSP00000286688.5:p.Arg177Trp
ENST00000286688.5:c.529C>T	ENSP00000286688.5:p.Arg177Trp
NM_177965.3:c.529C>T	NP_808880.1:p.Arg177Trp
XM_005250799.2:c.772C>T	XP_005250856.2:p.Arg258Trp
NM_001363260.1:c.433C>T	NP_001350189.1:p.Arg145Trp
NM_177965.4:c.529C>T MANE Select	NP_808880.1:p.Arg177Trp