Canonical Allele Identifier: CA378091978

Gene: CFAP43

Linked Data

• MyVariant Identifiers: chr10:g.105921793T>A (hg19) ; chr10:g.104162035T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162035T>A , CM000672.2:g.104162035T>A	GRCh38
NC_000010.10:g.105921793T>A , CM000672.1:g.105921793T>A	GRCh37
NC_000010.9:g.105911783T>A	NCBI36
NG_051581.1:g.75343A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3340A>T MANE Select	ENSP00000349568.3:p.Ser1114Cys
ENST00000357060.7:c.3340A>T	ENSP00000349568.3:p.Ser1114Cys
ENST00000434629.5:c.1422A>T
NM_025145.5:c.3340A>T	NP_079421.5:p.Ser1114Cys
XM_005270171.1:c.3343A>T	XP_005270228.1:p.Ser1115Cys
XM_005270172.2:c.3343A>T	XP_005270229.1:p.Ser1115Cys
XM_011540196.1:c.3457A>T	XP_011538498.1:p.Ser1153Cys
XM_011540197.1:c.3457A>T	XP_011538499.1:p.Ser1153Cys
XM_011540198.1:c.3340A>T	XP_011538500.1:p.Ser1114Cys
XM_011540199.1:c.3340A>T	XP_011538501.1:p.Ser1114Cys
XM_011540200.1:c.3457A>T	XP_011538502.1:p.Ser1153Cys
XM_011540201.1:c.3457A>T	XP_011538503.1:p.Ser1153Cys
XM_011540202.1:c.2686A>T	XP_011538504.1:p.Ser896Cys
XM_011540203.1:c.1240A>T	XP_011538505.1:p.Ser414Cys
NM_025145.6:c.3340A>T	NP_079421.5:p.Ser1114Cys
XM_005270171.2:c.3343A>T	XP_005270228.1:p.Ser1115Cys
XM_005270172.3:c.3343A>T	XP_005270229.1:p.Ser1115Cys
XM_011540196.2:c.3457A>T	XP_011538498.1:p.Ser1153Cys
XM_011540197.2:c.3457A>T	XP_011538499.1:p.Ser1153Cys
XM_011540198.2:c.3340A>T	XP_011538500.1:p.Ser1114Cys
XM_011540199.2:c.3340A>T	XP_011538501.1:p.Ser1114Cys
XM_011540200.2:c.3457A>T	XP_011538502.1:p.Ser1153Cys
XM_011540201.2:c.3457A>T	XP_011538503.1:p.Ser1153Cys
XM_011540202.2:c.2686A>T	XP_011538504.1:p.Ser896Cys
XM_017016681.1:c.3454A>T	XP_016872170.1:p.Ser1152Cys
XM_017016682.1:c.3109A>T	XP_016872171.1:p.Ser1037Cys
XM_024448177.1:c.1843A>T	XP_024303945.1:p.Ser615Cys
XM_024448178.1:c.1240A>T	XP_024303946.1:p.Ser414Cys
XR_002957015.1:n.3226A>T
NM_025145.7:c.3340A>T MANE Select	NP_079421.5:p.Ser1114Cys