Canonical Allele Identifier: CA4815118

Gene: CFAP418

Linked Data

• ClinVar Variation Id: 363999
• ClinVar RCV Id: RCV000625262 ; RCV001701000 ; RCV000323905 ; RCV000954269
• dbSNP Id: rs143748636
• ExAC: 8:96259941 T / C
• gnomAD v2: 8-96259941-T-C
• gnomAD v3: 8-95247713-T-C
• gnomAD v4: 8-95247713-T-C
• MyVariant Identifiers: chr8:g.96259941T>C (hg19) ; chr8:g.95247713T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95247713T>C , CM000670.2:g.95247713T>C	GRCh38
NC_000008.10:g.96259941T>C , CM000670.1:g.96259941T>C	GRCh37
NC_000008.9:g.96329117T>C	NCBI36
NG_032804.1:g.26522A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.528A>G MANE Select	ENSP00000286688.5:p.Thr176=
ENST00000286688.5:c.528A>G	ENSP00000286688.5:p.Thr176=
NM_177965.3:c.528A>G	NP_808880.1:p.Thr176=
XM_005250799.2:c.771A>G	XP_005250856.2:p.Thr257=
NM_001363260.1:c.432A>G	NP_001350189.1:p.Thr144=
NM_177965.4:c.528A>G MANE Select	NP_808880.1:p.Thr176=