Canonical Allele Identifier: CA941605453
Community Standard Title: NM_032930.3(CFAP300):c.435+4A>G
Gene: CFAP300 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.102066655A>G , CM000673.2:g.102066655A>G GRCh38
NC_000011.9:g.101937386A>G , CM000673.1:g.101937386A>G GRCh37
NC_000011.8:g.101442596A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_032930.3:c.435+4A>G MANE Select NP_116319.2:n.435+4A>G
ENST00000434758.7:c.435+4A>G MANE Select ENSP00000414390.2:n.435+4A>G
NM_001195005.1:c.268+7700A>G NP_001181934.1:n.268+7700A>G
NM_001195005.2:c.268+7700A>G NP_001181934.1:n.268+7700A>G
NM_001363505.1:c.435+4A>G NP_001350434.1:n.435+4A>G
NM_001363505.2:c.435+4A>G NP_001350434.1:n.435+4A>G
NM_032930.2:c.435+4A>G NP_116319.2:n.435+4A>G
ENST00000434758.6:c.435+4A>G ENSP00000414390.2:n.435+4A>G
ENST00000526781.5:c.435+4A>G ENSP00000433074.1:n.435+4A>G
ENST00000529204.1:c.110+4A>G
ENST00000530659.1:n.672+4A>G
ENST00000534360.1:c.268+7700A>G ENSP00000435482.1:n.268+7700A>G
XM_005271713.2:c.435+4A>G XP_005271770.1:n.435+4A>G
XM_005271713.4:c.435+4A>G XP_005271770.1:n.435+4A>G
XM_006718929.2:c.268+7700A>G XP_006718992.1:n.268+7700A>G
XM_017018454.1:c.435+4A>G XP_016873943.1:n.435+4A>G