Canonical Allele Identifier: CA378091832

Gene: CFAP43

Linked Data

• MyVariant Identifiers: chr10:g.105921761C>G (hg19) ; chr10:g.104162003C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162003C>G , CM000672.2:g.104162003C>G	GRCh38
NC_000010.10:g.105921761C>G , CM000672.1:g.105921761C>G	GRCh37
NC_000010.9:g.105911751C>G	NCBI36
NG_051581.1:g.75375G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3372G>C MANE Select	ENSP00000349568.3:p.Met1124Ile
ENST00000357060.7:c.3372G>C	ENSP00000349568.3:p.Met1124Ile
ENST00000434629.5:c.1454G>C
NM_025145.5:c.3372G>C	NP_079421.5:p.Met1124Ile
XM_005270171.1:c.3375G>C	XP_005270228.1:p.Met1125Ile
XM_005270172.2:c.3375G>C	XP_005270229.1:p.Met1125Ile
XM_011540196.1:c.3489G>C	XP_011538498.1:p.Met1163Ile
XM_011540197.1:c.3489G>C	XP_011538499.1:p.Met1163Ile
XM_011540198.1:c.3372G>C	XP_011538500.1:p.Met1124Ile
XM_011540199.1:c.3372G>C	XP_011538501.1:p.Met1124Ile
XM_011540200.1:c.3489G>C	XP_011538502.1:p.Met1163Ile
XM_011540201.1:c.3489G>C	XP_011538503.1:p.Met1163Ile
XM_011540202.1:c.2718G>C	XP_011538504.1:p.Met906Ile
XM_011540203.1:c.1272G>C	XP_011538505.1:p.Met424Ile
NM_025145.6:c.3372G>C	NP_079421.5:p.Met1124Ile
XM_005270171.2:c.3375G>C	XP_005270228.1:p.Met1125Ile
XM_005270172.3:c.3375G>C	XP_005270229.1:p.Met1125Ile
XM_011540196.2:c.3489G>C	XP_011538498.1:p.Met1163Ile
XM_011540197.2:c.3489G>C	XP_011538499.1:p.Met1163Ile
XM_011540198.2:c.3372G>C	XP_011538500.1:p.Met1124Ile
XM_011540199.2:c.3372G>C	XP_011538501.1:p.Met1124Ile
XM_011540200.2:c.3489G>C	XP_011538502.1:p.Met1163Ile
XM_011540201.2:c.3489G>C	XP_011538503.1:p.Met1163Ile
XM_011540202.2:c.2718G>C	XP_011538504.1:p.Met906Ile
XM_017016681.1:c.3486G>C	XP_016872170.1:p.Met1162Ile
XM_017016682.1:c.3141G>C	XP_016872171.1:p.Met1047Ile
XM_024448177.1:c.1875G>C	XP_024303945.1:p.Met625Ile
XM_024448178.1:c.1272G>C	XP_024303946.1:p.Met424Ile
XR_002957015.1:n.3258G>C
NM_025145.7:c.3372G>C MANE Select	NP_079421.5:p.Met1124Ile