Canonical Allele Identifier: CA11754644
Gene: CFAP299 HGNC NCBI

Linked Data

dbSNP Id: rs1385890
gnomAD v2: 4-81535393-G-A
gnomAD v3: 4-80614239-G-A
gnomAD v4: 4-80614239-G-A
MyVariant Identifiers: chr4:g.81535393G>A (hg19) chr4:g.80614239G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.80614239G>A , CM000666.2:g.80614239G>A GRCh38
NC_000004.11:g.81535393G>A , CM000666.1:g.81535393G>A GRCh37
NC_000004.10:g.81754417G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000358105.8:c.333+31056G>A MANE Select ENSP00000350818.3:n.333+31056G>A
ENST00000358105.7:c.333+31056G>A ENSP00000350818.3:n.333+31056G>A
ENST00000502497.5:n.359+31056G>A
ENST00000508675.1:c.384+5856G>A ENSP00000425786.1:n.384+5856G>A
ENST00000512931.5:n.361-25479G>A
ENST00000513920.5:c.334-25479G>A ENSP00000422569.1:n.334-25479G>A
ENST00000514249.5:c.*182+31056G>A ENSP00000426308.1:n.*182+31056G>A
NM_001206997.1:c.384+5856G>A NP_001193926.1:n.384+5856G>A
NM_152770.2:c.333+31056G>A NP_689983.2:n.333+31056G>A
XM_011531811.1:c.333+31056G>A XP_011530113.1:n.333+31056G>A
XM_011531812.1:c.150+31056G>A XP_011530114.1:n.150+31056G>A
XM_011531813.1:c.333+31056G>A XP_011530115.1:n.333+31056G>A
XM_011531814.1:c.384+5856G>A XP_011530116.1:n.384+5856G>A
XM_011531815.1:c.333+31056G>A XP_011530117.1:n.333+31056G>A
XM_011531816.1:c.333+31056G>A XP_011530118.1:n.333+31056G>A
XM_011531816.2:c.387+31056G>A XP_011530118.2:n.387+31056G>A
XM_017007972.1:c.387+31056G>A XP_016863461.1:n.387+31056G>A
XM_017007973.1:c.387+31056G>A XP_016863462.1:n.387+31056G>A
XM_017007974.1:c.387+31056G>A XP_016863463.1:n.387+31056G>A
XM_017007975.1:c.150+31056G>A XP_016863464.1:n.150+31056G>A
XM_017007976.1:c.438+5856G>A XP_016863465.1:n.438+5856G>A
XM_017007977.1:c.388-11107G>A XP_016863466.1:n.388-11107G>A
XM_017007978.1:c.93+31056G>A XP_016863467.1:n.93+31056G>A
NM_001206997.2:c.384+5856G>A NP_001193926.1:n.384+5856G>A
NM_152770.3:c.333+31056G>A MANE Select NP_689983.2:n.333+31056G>A
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