Canonical Allele Identifier: CA378091800

Gene: CFAP43

Linked Data

• MyVariant Identifiers: chr10:g.105921750A>C (hg19) ; chr10:g.104161992A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104161992A>C , CM000672.2:g.104161992A>C	GRCh38
NC_000010.10:g.105921750A>C , CM000672.1:g.105921750A>C	GRCh37
NC_000010.9:g.105911740A>C	NCBI36
NG_051581.1:g.75386T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3383T>G MANE Select	ENSP00000349568.3:p.Leu1128Arg
ENST00000357060.7:c.3383T>G	ENSP00000349568.3:p.Leu1128Arg
ENST00000434629.5:c.1465T>G
NM_025145.5:c.3383T>G	NP_079421.5:p.Leu1128Arg
XM_005270171.1:c.3386T>G	XP_005270228.1:p.Leu1129Arg
XM_005270172.2:c.3386T>G	XP_005270229.1:p.Leu1129Arg
XM_011540196.1:c.3500T>G	XP_011538498.1:p.Leu1167Arg
XM_011540197.1:c.3500T>G	XP_011538499.1:p.Leu1167Arg
XM_011540198.1:c.3383T>G	XP_011538500.1:p.Leu1128Arg
XM_011540199.1:c.3383T>G	XP_011538501.1:p.Leu1128Arg
XM_011540200.1:c.3500T>G	XP_011538502.1:p.Leu1167Arg
XM_011540201.1:c.3500T>G	XP_011538503.1:p.Leu1167Arg
XM_011540202.1:c.2729T>G	XP_011538504.1:p.Leu910Arg
XM_011540203.1:c.1283T>G	XP_011538505.1:p.Leu428Arg
NM_025145.6:c.3383T>G	NP_079421.5:p.Leu1128Arg
XM_005270171.2:c.3386T>G	XP_005270228.1:p.Leu1129Arg
XM_005270172.3:c.3386T>G	XP_005270229.1:p.Leu1129Arg
XM_011540196.2:c.3500T>G	XP_011538498.1:p.Leu1167Arg
XM_011540197.2:c.3500T>G	XP_011538499.1:p.Leu1167Arg
XM_011540198.2:c.3383T>G	XP_011538500.1:p.Leu1128Arg
XM_011540199.2:c.3383T>G	XP_011538501.1:p.Leu1128Arg
XM_011540200.2:c.3500T>G	XP_011538502.1:p.Leu1167Arg
XM_011540201.2:c.3500T>G	XP_011538503.1:p.Leu1167Arg
XM_011540202.2:c.2729T>G	XP_011538504.1:p.Leu910Arg
XM_017016681.1:c.3497T>G	XP_016872170.1:p.Leu1166Arg
XM_017016682.1:c.3152T>G	XP_016872171.1:p.Leu1051Arg
XM_024448177.1:c.1886T>G	XP_024303945.1:p.Leu629Arg
XM_024448178.1:c.1283T>G	XP_024303946.1:p.Leu428Arg
XR_002957015.1:n.3269T>G
NM_025145.7:c.3383T>G MANE Select	NP_079421.5:p.Leu1128Arg