Canonical Allele Identifier: CA4815138

Gene: CFAP418

Linked Data

• ClinVar Variation Id: 364000
• ClinVar RCV Id: RCV000327534 ; RCV000384966 ; RCV001509849 ; RCV003889874
• dbSNP Id: rs35141355
• ExAC: 8:96264436 C / T
• gnomAD v2: 8-96264436-C-T
• gnomAD v3: 8-95252208-C-T
• gnomAD v4: 8-95252208-C-T
• MyVariant Identifiers: chr8:g.96264436C>T (hg19) ; chr8:g.95252208C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95252208C>T , CM000670.2:g.95252208C>T	GRCh38
NC_000008.10:g.96264436C>T , CM000670.1:g.96264436C>T	GRCh37
NC_000008.9:g.96333612C>T	NCBI36
NG_032804.1:g.22027G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.450G>A MANE Select	ENSP00000286688.5:p.Ser150=
ENST00000286688.5:c.450G>A	ENSP00000286688.5:p.Ser150=
NM_177965.3:c.450G>A	NP_808880.1:p.Ser150=
XM_005250799.2:c.714-4438G>A	XP_005250856.2:n.714-4438G>A
NM_001363260.1:c.375-4438G>A	NP_001350189.1:n.375-4438G>A
NM_177965.4:c.450G>A MANE Select	NP_808880.1:p.Ser150=