Canonical Allele Identifier: CA2687989274
Gene: CFAP418 HGNC NCBI

Linked Data

gnomAD v4: 8-95260449-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.95260449C>T , CM000670.2:g.95260449C>T GRCh38
NC_000008.10:g.96272677C>T , CM000670.1:g.96272677C>T GRCh37
NC_000008.9:g.96341853C>T NCBI36
NG_032804.1:g.13786G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000286688.6:c.308+19G>A MANE Select ENSP00000286688.5:n.308+19G>A
ENST00000286688.5:c.308+19G>A ENSP00000286688.5:n.308+19G>A
NM_177965.3:c.308+19G>A NP_808880.1:n.308+19G>A
XM_005250799.2:c.647+19G>A XP_005250856.2:n.647+19G>A
NM_001363260.1:c.308+19G>A NP_001350189.1:n.308+19G>A
NM_177965.4:c.308+19G>A MANE Select NP_808880.1:n.308+19G>A
Search 100 bp 5'
Search 100 bp 3'