Canonical Allele Identifier: CA1116810481

Gene: CFAP418

Linked Data

• dbSNP Id: rs1811642123
• gnomAD v3: 8-95247611-G-A
• gnomAD v4: 8-95247611-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95247611G>A , CM000670.2:g.95247611G>A	GRCh38
NC_000008.10:g.96259839G>A , CM000670.1:g.96259839G>A	GRCh37
NC_000008.9:g.96329015G>A	NCBI36
NG_032804.1:g.26624C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000286688.6:c.*6C>T MANE Select	ENSP00000286688.5:n.*6C>T
ENST00000286688.5:c.*6C>T	ENSP00000286688.5:n.*6C>T
NM_177965.3:c.*6C>T	NP_808880.1:n.*6C>T
XM_005250799.2:c.*6C>T	XP_005250856.2:n.*6C>T
NM_001363260.1:c.*6C>T	NP_001350189.1:n.*6C>T
NM_177965.4:c.*6C>T MANE Select	NP_808880.1:n.*6C>T