Canonical Allele Identifier: CA228275763

Gene: CFAP300

Linked Data

• ClinVar Variation Id: 1681447
• ClinVar RCV Id: RCV002239626
• dbSNP Id: rs1007778077
• MyVariant Identifiers: chr11:g.101918329A>C (hg19) ; chr11:g.102047598A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.102047598A>C , CM000673.2:g.102047598A>C	GRCh38
NC_000011.9:g.101918329A>C , CM000673.1:g.101918329A>C	GRCh37
NC_000011.8:g.101423539A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434758.7:c.110+18A>C MANE Select	ENSP00000414390.2:n.110+18A>C
ENST00000434758.6:c.110+18A>C	ENSP00000414390.2:n.110+18A>C
ENST00000526781.5:c.110+18A>C	ENSP00000433074.1:n.110+18A>C
ENST00000530659.1:n.131A>C
ENST00000534360.1:c.110+18A>C	ENSP00000435482.1:n.110+18A>C
NM_001195005.1:c.110+18A>C	NP_001181934.1:n.110+18A>C
NM_032930.2:c.110+18A>C	NP_116319.2:n.110+18A>C
XM_005271713.2:c.110+18A>C	XP_005271770.1:n.110+18A>C
XM_006718929.2:c.110+18A>C	XP_006718992.1:n.110+18A>C
NM_001363505.1:c.110+18A>C	NP_001350434.1:n.110+18A>C
XM_005271713.4:c.110+18A>C	XP_005271770.1:n.110+18A>C
XM_017018454.1:c.110+18A>C	XP_016873943.1:n.110+18A>C
NM_032930.3:c.110+18A>C MANE Select	NP_116319.2:n.110+18A>C
NM_001195005.2:c.110+18A>C	NP_001181934.1:n.110+18A>C
NM_001363505.2:c.110+18A>C	NP_001350434.1:n.110+18A>C