Canonical Allele Identifier: CA378091876

Gene: CFAP43

Linked Data

• MyVariant Identifiers: chr10:g.105921769C>A (hg19) ; chr10:g.104162011C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162011C>A , CM000672.2:g.104162011C>A	GRCh38
NC_000010.10:g.105921769C>A , CM000672.1:g.105921769C>A	GRCh37
NC_000010.9:g.105911759C>A	NCBI36
NG_051581.1:g.75367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3364G>T MANE Select	ENSP00000349568.3:p.Asp1122Tyr
ENST00000357060.7:c.3364G>T	ENSP00000349568.3:p.Asp1122Tyr
ENST00000434629.5:c.1446G>T
NM_025145.5:c.3364G>T	NP_079421.5:p.Asp1122Tyr
XM_005270171.1:c.3367G>T	XP_005270228.1:p.Asp1123Tyr
XM_005270172.2:c.3367G>T	XP_005270229.1:p.Asp1123Tyr
XM_011540196.1:c.3481G>T	XP_011538498.1:p.Asp1161Tyr
XM_011540197.1:c.3481G>T	XP_011538499.1:p.Asp1161Tyr
XM_011540198.1:c.3364G>T	XP_011538500.1:p.Asp1122Tyr
XM_011540199.1:c.3364G>T	XP_011538501.1:p.Asp1122Tyr
XM_011540200.1:c.3481G>T	XP_011538502.1:p.Asp1161Tyr
XM_011540201.1:c.3481G>T	XP_011538503.1:p.Asp1161Tyr
XM_011540202.1:c.2710G>T	XP_011538504.1:p.Asp904Tyr
XM_011540203.1:c.1264G>T	XP_011538505.1:p.Asp422Tyr
NM_025145.6:c.3364G>T	NP_079421.5:p.Asp1122Tyr
XM_005270171.2:c.3367G>T	XP_005270228.1:p.Asp1123Tyr
XM_005270172.3:c.3367G>T	XP_005270229.1:p.Asp1123Tyr
XM_011540196.2:c.3481G>T	XP_011538498.1:p.Asp1161Tyr
XM_011540197.2:c.3481G>T	XP_011538499.1:p.Asp1161Tyr
XM_011540198.2:c.3364G>T	XP_011538500.1:p.Asp1122Tyr
XM_011540199.2:c.3364G>T	XP_011538501.1:p.Asp1122Tyr
XM_011540200.2:c.3481G>T	XP_011538502.1:p.Asp1161Tyr
XM_011540201.2:c.3481G>T	XP_011538503.1:p.Asp1161Tyr
XM_011540202.2:c.2710G>T	XP_011538504.1:p.Asp904Tyr
XM_017016681.1:c.3478G>T	XP_016872170.1:p.Asp1160Tyr
XM_017016682.1:c.3133G>T	XP_016872171.1:p.Asp1045Tyr
XM_024448177.1:c.1867G>T	XP_024303945.1:p.Asp623Tyr
XM_024448178.1:c.1264G>T	XP_024303946.1:p.Asp422Tyr
XR_002957015.1:n.3250G>T
NM_025145.7:c.3364G>T MANE Select	NP_079421.5:p.Asp1122Tyr