Canonical Allele Identifier: CA2115739
Gene: CFAP65 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.219027601G>A , CM000664.2:g.219027601G>A GRCh38
NC_000002.11:g.219892323G>A , CM000664.1:g.219892323G>A GRCh37
NC_000002.10:g.219600567G>A NCBI36
NG_051336.1:g.18951C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341552.10:c.2211+49C>T MANE Select ENSP00000340776.5:n.2211+49C>T
ENST00000341552.9:c.2211+49C>T ENSP00000340776.5:n.2211+49C>T
ENST00000409865.7:c.2227C>T ENSP00000386945.3:p.Leu743=
ENST00000410037.5:c.2065C>T ENSP00000386258.1:p.Leu689=
ENST00000441968.5:c.688C>T ENSP00000413377.2:p.Leu230=
ENST00000453220.5:c.2211+49C>T ENSP00000409117.1:n.2211+49C>T
ENST00000462848.5:n.2389C>T
ENST00000463683.1:n.2442C>T
ENST00000474601.1:n.1022C>T
NM_001278295.1:c.2227C>T NP_001265224.1:p.Leu743=
NM_001278296.1:c.2065C>T NP_001265225.1:p.Leu689=
NM_194302.3:c.2211+49C>T NP_919278.2:n.2211+49C>T
XM_011510903.1:c.2214+49C>T XP_011509205.1:n.2214+49C>T
XM_011510904.1:c.2214+49C>T XP_011509206.1:n.2214+49C>T
XM_011510905.1:c.2211+49C>T XP_011509207.1:n.2211+49C>T
XM_011510906.1:c.2211+49C>T XP_011509208.1:n.2211+49C>T
XM_011510907.1:c.2211+49C>T XP_011509209.1:n.2211+49C>T
XM_011510908.1:c.2211+49C>T XP_011509210.1:n.2211+49C>T
XM_011510909.1:c.2211+49C>T XP_011509211.1:n.2211+49C>T
XM_011510910.1:c.2214+49C>T XP_011509212.1:n.2214+49C>T
XM_011510911.1:c.2016+49C>T XP_011509213.1:n.2016+49C>T
XM_011510912.1:c.2016+49C>T XP_011509214.1:n.2016+49C>T
XM_011510913.1:c.2016+49C>T XP_011509215.1:n.2016+49C>T
XM_011510914.1:c.2016+49C>T XP_011509216.1:n.2016+49C>T
XM_011510915.1:c.2016+49C>T XP_011509217.1:n.2016+49C>T
XM_011510916.1:c.1935+49C>T XP_011509218.1:n.1935+49C>T
XM_011510917.1:c.2016+49C>T XP_011509219.1:n.2016+49C>T
XM_011510918.1:c.2016+49C>T XP_011509220.1:n.2016+49C>T
XM_011510919.1:c.2214+49C>T XP_011509221.1:n.2214+49C>T
XM_011510920.1:c.2214+49C>T XP_011509222.1:n.2214+49C>T
XM_011510921.1:c.570+49C>T XP_011509223.1:n.570+49C>T
XM_011510904.2:c.2214+49C>T XP_011509206.1:n.2214+49C>T
XM_017003752.1:c.2211+49C>T XP_016859241.1:n.2211+49C>T
XM_017003753.1:c.2178+49C>T XP_016859242.1:n.2178+49C>T
XM_017003754.1:c.2016+49C>T XP_016859243.1:n.2016+49C>T
XM_017003755.1:c.2016+49C>T XP_016859244.1:n.2016+49C>T
NM_194302.4:c.2211+49C>T MANE Select NP_919278.2:n.2211+49C>T
NM_001278296.2:c.2065C>T NP_001265225.1:p.Leu689=