Canonical Allele Identifier: CA4815119

Gene: CFAP418

Linked Data

• ClinVar Variation Id: 283430
• ClinVar RCV Id: RCV000265472 ; RCV000376242 ; RCV000400757 ; RCV001174660
• dbSNP Id: rs148114532
• ExAC: 8:96259948 T / C
• gnomAD v2: 8-96259948-T-C
• gnomAD v3: 8-95247720-T-C
• gnomAD v4: 8-95247720-T-C
• MyVariant Identifiers: chr8:g.96259948T>C (hg19) ; chr8:g.95247720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95247720T>C , CM000670.2:g.95247720T>C	GRCh38
NC_000008.10:g.96259948T>C , CM000670.1:g.96259948T>C	GRCh37
NC_000008.9:g.96329124T>C	NCBI36
NG_032804.1:g.26515A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.521A>G MANE Select	ENSP00000286688.5:p.Lys174Arg
ENST00000286688.5:c.521A>G	ENSP00000286688.5:p.Lys174Arg
NM_177965.3:c.521A>G	NP_808880.1:p.Lys174Arg
XM_005250799.2:c.764A>G	XP_005250856.2:p.Lys255Arg
NM_001363260.1:c.425A>G	NP_001350189.1:p.Lys142Arg
NM_177965.4:c.521A>G MANE Select	NP_808880.1:p.Lys174Arg