Canonical Allele Identifier: CA2697548912

Gene: CFAP300

Linked Data

• ClinVar Variation Id: 2755591
• ClinVar RCV Id: RCV003571366

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102047811C>A , CM000673.2:g.102047811C>A	GRCh38
NC_000011.9:g.101918542C>A , CM000673.1:g.101918542C>A	GRCh37
NC_000011.8:g.101423752C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434758.7:c.111-4C>A MANE Select	ENSP00000414390.2:n.111-4C>A
ENST00000434758.6:c.111-4C>A	ENSP00000414390.2:n.111-4C>A
ENST00000526781.5:c.111-4C>A	ENSP00000433074.1:n.111-4C>A
ENST00000530659.1:n.344C>A
ENST00000534360.1:c.111-4C>A	ENSP00000435482.1:n.111-4C>A
NM_001195005.1:c.111-4C>A	NP_001181934.1:n.111-4C>A
NM_032930.2:c.111-4C>A	NP_116319.2:n.111-4C>A
XM_005271713.2:c.111-4C>A	XP_005271770.1:n.111-4C>A
XM_006718929.2:c.111-4C>A	XP_006718992.1:n.111-4C>A
NM_001363505.1:c.111-4C>A	NP_001350434.1:n.111-4C>A
XM_005271713.4:c.111-4C>A	XP_005271770.1:n.111-4C>A
XM_017018454.1:c.111-4C>A	XP_016873943.1:n.111-4C>A
NM_032930.3:c.111-4C>A MANE Select	NP_116319.2:n.111-4C>A
NM_001195005.2:c.111-4C>A	NP_001181934.1:n.111-4C>A
NM_001363505.2:c.111-4C>A	NP_001350434.1:n.111-4C>A