Canonical Allele Identifier: CA8962257

Gene: CFAP53

Linked Data

• ClinVar Variation Id: 262561
• ClinVar RCV Id: RCV000243284 ; RCV000878481
• dbSNP Id: rs35308427
• ExAC: 18:47777185 G / A
• gnomAD v2: 18-47777185-G-A
• gnomAD v3: 18-50250815-G-A
• gnomAD v4: 18-50250815-G-A
• MyVariant Identifiers: chr18:g.47777185G>A (hg19) ; chr18:g.50250815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.50250815G>A , CM000680.2:g.50250815G>A	GRCh38
NC_000018.9:g.47777185G>A , CM000680.1:g.47777185G>A	GRCh37
NC_000018.8:g.46031183G>A	NCBI36
NG_042815.1:g.20708C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398545.5:c.939C>T MANE Select	ENSP00000381553.3:p.Leu313=
ENST00000398545.4:c.939C>T	ENSP00000381553.3:p.Leu313=
NM_145020.3:c.939C>T	NP_659457.2:p.Leu313=
NM_145020.4:c.939C>T	NP_659457.2:p.Leu313=
XM_024451100.1:c.342C>T	XP_024306868.1:p.Leu114=
NM_145020.5:c.939C>T MANE Select	NP_659457.2:p.Leu313=