Canonical Allele Identifier: CA378092202

Gene: CFAP43

Linked Data

• dbSNP Id: rs2088922054
• MyVariant Identifiers: chr10:g.105922086G>C (hg19) ; chr10:g.104162328G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162328G>C , CM000672.2:g.104162328G>C	GRCh38
NC_000010.10:g.105922086G>C , CM000672.1:g.105922086G>C	GRCh37
NC_000010.9:g.105912076G>C	NCBI36
NG_051581.1:g.75050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3322C>G MANE Select	ENSP00000349568.3:p.Leu1108Val
ENST00000357060.7:c.3322C>G	ENSP00000349568.3:p.Leu1108Val
ENST00000434629.5:c.1404C>G
NM_025145.5:c.3322C>G	NP_079421.5:p.Leu1108Val
XM_005270171.1:c.3325C>G	XP_005270228.1:p.Leu1109Val
XM_005270172.2:c.3325C>G	XP_005270229.1:p.Leu1109Val
XM_011540196.1:c.3439C>G	XP_011538498.1:p.Leu1147Val
XM_011540197.1:c.3439C>G	XP_011538499.1:p.Leu1147Val
XM_011540198.1:c.3322C>G	XP_011538500.1:p.Leu1108Val
XM_011540199.1:c.3322C>G	XP_011538501.1:p.Leu1108Val
XM_011540200.1:c.3439C>G	XP_011538502.1:p.Leu1147Val
XM_011540201.1:c.3439C>G	XP_011538503.1:p.Leu1147Val
XM_011540202.1:c.2668C>G	XP_011538504.1:p.Leu890Val
XM_011540203.1:c.1222C>G	XP_011538505.1:p.Leu408Val
NM_025145.6:c.3322C>G	NP_079421.5:p.Leu1108Val
XM_005270171.2:c.3325C>G	XP_005270228.1:p.Leu1109Val
XM_005270172.3:c.3325C>G	XP_005270229.1:p.Leu1109Val
XM_011540196.2:c.3439C>G	XP_011538498.1:p.Leu1147Val
XM_011540197.2:c.3439C>G	XP_011538499.1:p.Leu1147Val
XM_011540198.2:c.3322C>G	XP_011538500.1:p.Leu1108Val
XM_011540199.2:c.3322C>G	XP_011538501.1:p.Leu1108Val
XM_011540200.2:c.3439C>G	XP_011538502.1:p.Leu1147Val
XM_011540201.2:c.3439C>G	XP_011538503.1:p.Leu1147Val
XM_011540202.2:c.2668C>G	XP_011538504.1:p.Leu890Val
XM_017016681.1:c.3436C>G	XP_016872170.1:p.Leu1146Val
XM_017016682.1:c.3091C>G	XP_016872171.1:p.Leu1031Val
XM_024448177.1:c.1825C>G	XP_024303945.1:p.Leu609Val
XM_024448178.1:c.1222C>G	XP_024303946.1:p.Leu408Val
XR_002957015.1:n.3208C>G
NM_025145.7:c.3322C>G MANE Select	NP_079421.5:p.Leu1108Val