Canonical Allele Identifier: CA4815197

Gene: CFAP418

Linked Data

• ClinVar Variation Id: 522286
• ClinVar RCV Id: RCV000625263 ; RCV001167827 ; RCV001700418 ; RCV003889939 ; RCV003905669
• dbSNP Id: rs199731969
• ExAC: 8:96272735 T / C
• gnomAD v2: 8-96272735-T-C
• gnomAD v3: 8-95260507-T-C
• gnomAD v4: 8-95260507-T-C
• MyVariant Identifiers: chr8:g.96272735T>C (hg19) ; chr8:g.95260507T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95260507T>C , CM000670.2:g.95260507T>C	GRCh38
NC_000008.10:g.96272735T>C , CM000670.1:g.96272735T>C	GRCh37
NC_000008.9:g.96341911T>C	NCBI36
NG_032804.1:g.13728A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.269A>G MANE Select	ENSP00000286688.5:p.Asn90Ser
ENST00000286688.5:c.269A>G	ENSP00000286688.5:p.Asn90Ser
NM_177965.3:c.269A>G	NP_808880.1:p.Asn90Ser
XM_005250799.2:c.608A>G	XP_005250856.2:p.Asn203Ser
NM_001363260.1:c.269A>G	NP_001350189.1:p.Asn90Ser
NM_177965.4:c.269A>G MANE Select	NP_808880.1:p.Asn90Ser