Canonical Allele Identifier: CA378092156

Gene: CFAP43

Linked Data

• dbSNP Id: rs1403320632
• gnomAD v2: 10-105922079-A-G
• gnomAD v3: 10-104162321-A-G
• gnomAD v4: 10-104162321-A-G
• MyVariant Identifiers: chr10:g.105922079A>G (hg19) ; chr10:g.104162321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104162321A>G , CM000672.2:g.104162321A>G	GRCh38
NC_000010.10:g.105922079A>G , CM000672.1:g.105922079A>G	GRCh37
NC_000010.9:g.105912069A>G	NCBI36
NG_051581.1:g.75057T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3329T>C MANE Select	ENSP00000349568.3:p.Ile1110Thr
ENST00000357060.7:c.3329T>C	ENSP00000349568.3:p.Ile1110Thr
ENST00000434629.5:c.1411T>C
NM_025145.5:c.3329T>C	NP_079421.5:p.Ile1110Thr
XM_005270171.1:c.3332T>C	XP_005270228.1:p.Ile1111Thr
XM_005270172.2:c.3332T>C	XP_005270229.1:p.Ile1111Thr
XM_011540196.1:c.3446T>C	XP_011538498.1:p.Ile1149Thr
XM_011540197.1:c.3446T>C	XP_011538499.1:p.Ile1149Thr
XM_011540198.1:c.3329T>C	XP_011538500.1:p.Ile1110Thr
XM_011540199.1:c.3329T>C	XP_011538501.1:p.Ile1110Thr
XM_011540200.1:c.3446T>C	XP_011538502.1:p.Ile1149Thr
XM_011540201.1:c.3446T>C	XP_011538503.1:p.Ile1149Thr
XM_011540202.1:c.2675T>C	XP_011538504.1:p.Ile892Thr
XM_011540203.1:c.1229T>C	XP_011538505.1:p.Ile410Thr
NM_025145.6:c.3329T>C	NP_079421.5:p.Ile1110Thr
XM_005270171.2:c.3332T>C	XP_005270228.1:p.Ile1111Thr
XM_005270172.3:c.3332T>C	XP_005270229.1:p.Ile1111Thr
XM_011540196.2:c.3446T>C	XP_011538498.1:p.Ile1149Thr
XM_011540197.2:c.3446T>C	XP_011538499.1:p.Ile1149Thr
XM_011540198.2:c.3329T>C	XP_011538500.1:p.Ile1110Thr
XM_011540199.2:c.3329T>C	XP_011538501.1:p.Ile1110Thr
XM_011540200.2:c.3446T>C	XP_011538502.1:p.Ile1149Thr
XM_011540201.2:c.3446T>C	XP_011538503.1:p.Ile1149Thr
XM_011540202.2:c.2675T>C	XP_011538504.1:p.Ile892Thr
XM_017016681.1:c.3443T>C	XP_016872170.1:p.Ile1148Thr
XM_017016682.1:c.3098T>C	XP_016872171.1:p.Ile1033Thr
XM_024448177.1:c.1832T>C	XP_024303945.1:p.Ile611Thr
XM_024448178.1:c.1229T>C	XP_024303946.1:p.Ile410Thr
XR_002957015.1:n.3215T>C
NM_025145.7:c.3329T>C MANE Select	NP_079421.5:p.Ile1110Thr