Canonical Allele Identifier: CA5680315

Gene: CFAP43

Linked Data

• dbSNP Id: rs377766932
• ExAC: 10:105921745 C / A
• gnomAD v2: 10-105921745-C-A
• gnomAD v3: 10-104161987-C-A
• gnomAD v4: 10-104161987-C-A
• MyVariant Identifiers: chr10:g.105921745C>A (hg19) ; chr10:g.104161987C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104161987C>A , CM000672.2:g.104161987C>A	GRCh38
NC_000010.10:g.105921745C>A , CM000672.1:g.105921745C>A	GRCh37
NC_000010.9:g.105911735C>A	NCBI36
NG_051581.1:g.75391G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3388G>T MANE Select	ENSP00000349568.3:p.Val1130Phe
ENST00000357060.7:c.3388G>T	ENSP00000349568.3:p.Val1130Phe
ENST00000434629.5:c.1470G>T
NM_025145.5:c.3388G>T	NP_079421.5:p.Val1130Phe
XM_005270171.1:c.3391G>T	XP_005270228.1:p.Val1131Phe
XM_005270172.2:c.3391G>T	XP_005270229.1:p.Val1131Phe
XM_011540196.1:c.3505G>T	XP_011538498.1:p.Val1169Phe
XM_011540197.1:c.3505G>T	XP_011538499.1:p.Val1169Phe
XM_011540198.1:c.3388G>T	XP_011538500.1:p.Val1130Phe
XM_011540199.1:c.3388G>T	XP_011538501.1:p.Val1130Phe
XM_011540200.1:c.3505G>T	XP_011538502.1:p.Val1169Phe
XM_011540201.1:c.3505G>T	XP_011538503.1:p.Val1169Phe
XM_011540202.1:c.2734G>T	XP_011538504.1:p.Val912Phe
XM_011540203.1:c.1288G>T	XP_011538505.1:p.Val430Phe
NM_025145.6:c.3388G>T	NP_079421.5:p.Val1130Phe
XM_005270171.2:c.3391G>T	XP_005270228.1:p.Val1131Phe
XM_005270172.3:c.3391G>T	XP_005270229.1:p.Val1131Phe
XM_011540196.2:c.3505G>T	XP_011538498.1:p.Val1169Phe
XM_011540197.2:c.3505G>T	XP_011538499.1:p.Val1169Phe
XM_011540198.2:c.3388G>T	XP_011538500.1:p.Val1130Phe
XM_011540199.2:c.3388G>T	XP_011538501.1:p.Val1130Phe
XM_011540200.2:c.3505G>T	XP_011538502.1:p.Val1169Phe
XM_011540201.2:c.3505G>T	XP_011538503.1:p.Val1169Phe
XM_011540202.2:c.2734G>T	XP_011538504.1:p.Val912Phe
XM_017016681.1:c.3502G>T	XP_016872170.1:p.Val1168Phe
XM_017016682.1:c.3157G>T	XP_016872171.1:p.Val1053Phe
XM_024448177.1:c.1891G>T	XP_024303945.1:p.Val631Phe
XM_024448178.1:c.1288G>T	XP_024303946.1:p.Val430Phe
XR_002957015.1:n.3274G>T
NM_025145.7:c.3388G>T MANE Select	NP_079421.5:p.Val1130Phe