Canonical Allele Identifier: CA378092137

Gene: CFAP43

Linked Data

• gnomAD v4: 10-104162318-T-C
• MyVariant Identifiers: chr10:g.105922076T>C (hg19) ; chr10:g.104162318T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162318T>C , CM000672.2:g.104162318T>C	GRCh38
NC_000010.10:g.105922076T>C , CM000672.1:g.105922076T>C	GRCh37
NC_000010.9:g.105912066T>C	NCBI36
NG_051581.1:g.75060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3332A>G MANE Select	ENSP00000349568.3:p.Gln1111Arg
ENST00000357060.7:c.3332A>G	ENSP00000349568.3:p.Gln1111Arg
ENST00000434629.5:c.1414A>G
NM_025145.5:c.3332A>G	NP_079421.5:p.Gln1111Arg
XM_005270171.1:c.3335A>G	XP_005270228.1:p.Gln1112Arg
XM_005270172.2:c.3335A>G	XP_005270229.1:p.Gln1112Arg
XM_011540196.1:c.3449A>G	XP_011538498.1:p.Gln1150Arg
XM_011540197.1:c.3449A>G	XP_011538499.1:p.Gln1150Arg
XM_011540198.1:c.3332A>G	XP_011538500.1:p.Gln1111Arg
XM_011540199.1:c.3332A>G	XP_011538501.1:p.Gln1111Arg
XM_011540200.1:c.3449A>G	XP_011538502.1:p.Gln1150Arg
XM_011540201.1:c.3449A>G	XP_011538503.1:p.Gln1150Arg
XM_011540202.1:c.2678A>G	XP_011538504.1:p.Gln893Arg
XM_011540203.1:c.1232A>G	XP_011538505.1:p.Gln411Arg
NM_025145.6:c.3332A>G	NP_079421.5:p.Gln1111Arg
XM_005270171.2:c.3335A>G	XP_005270228.1:p.Gln1112Arg
XM_005270172.3:c.3335A>G	XP_005270229.1:p.Gln1112Arg
XM_011540196.2:c.3449A>G	XP_011538498.1:p.Gln1150Arg
XM_011540197.2:c.3449A>G	XP_011538499.1:p.Gln1150Arg
XM_011540198.2:c.3332A>G	XP_011538500.1:p.Gln1111Arg
XM_011540199.2:c.3332A>G	XP_011538501.1:p.Gln1111Arg
XM_011540200.2:c.3449A>G	XP_011538502.1:p.Gln1150Arg
XM_011540201.2:c.3449A>G	XP_011538503.1:p.Gln1150Arg
XM_011540202.2:c.2678A>G	XP_011538504.1:p.Gln893Arg
XM_017016681.1:c.3446A>G	XP_016872170.1:p.Gln1149Arg
XM_017016682.1:c.3101A>G	XP_016872171.1:p.Gln1034Arg
XM_024448177.1:c.1835A>G	XP_024303945.1:p.Gln612Arg
XM_024448178.1:c.1232A>G	XP_024303946.1:p.Gln411Arg
XR_002957015.1:n.3218A>G
NM_025145.7:c.3332A>G MANE Select	NP_079421.5:p.Gln1111Arg