Canonical Allele Identifier: CA2687989277

Gene: CFAP418

Linked Data

• gnomAD v4: 8-95260453-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.95260453G>A , CM000670.2:g.95260453G>A	GRCh38
NC_000008.10:g.96272681G>A , CM000670.1:g.96272681G>A	GRCh37
NC_000008.9:g.96341857G>A	NCBI36
NG_032804.1:g.13782C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000286688.6:c.308+15C>T MANE Select	ENSP00000286688.5:n.308+15C>T
ENST00000286688.5:c.308+15C>T	ENSP00000286688.5:n.308+15C>T
NM_177965.3:c.308+15C>T	NP_808880.1:n.308+15C>T
XM_005250799.2:c.647+15C>T	XP_005250856.2:n.647+15C>T
NM_001363260.1:c.308+15C>T	NP_001350189.1:n.308+15C>T
NM_177965.4:c.308+15C>T MANE Select	NP_808880.1:n.308+15C>T