Canonical Allele Identifier: CA212453364

Gene: CFAP43

Linked Data

• dbSNP Id: rs544208983
• gnomAD v2: 10-105921723-C-A
• gnomAD v3: 10-104161965-C-A
• gnomAD v4: 10-104161965-C-A
• MyVariant Identifiers: chr10:g.105921723C>A (hg19) ; chr10:g.104161965C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104161965C>A , CM000672.2:g.104161965C>A	GRCh38
NC_000010.10:g.105921723C>A , CM000672.1:g.105921723C>A	GRCh37
NC_000010.9:g.105911713C>A	NCBI36
NG_051581.1:g.75413G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3410G>T MANE Select	ENSP00000349568.3:p.Arg1137Ile
ENST00000357060.7:c.3410G>T	ENSP00000349568.3:p.Arg1137Ile
ENST00000434629.5:c.1492G>T
NM_025145.5:c.3410G>T	NP_079421.5:p.Arg1137Ile
XM_005270171.1:c.3413G>T	XP_005270228.1:p.Arg1138Ile
XM_005270172.2:c.3413G>T	XP_005270229.1:p.Arg1138Ile
XM_011540196.1:c.3527G>T	XP_011538498.1:p.Arg1176Ile
XM_011540197.1:c.3527G>T	XP_011538499.1:p.Arg1176Ile
XM_011540198.1:c.3410G>T	XP_011538500.1:p.Arg1137Ile
XM_011540199.1:c.3410G>T	XP_011538501.1:p.Arg1137Ile
XM_011540200.1:c.3527G>T	XP_011538502.1:p.Arg1176Ile
XM_011540201.1:c.3527G>T	XP_011538503.1:p.Arg1176Ile
XM_011540202.1:c.2756G>T	XP_011538504.1:p.Arg919Ile
XM_011540203.1:c.1310G>T	XP_011538505.1:p.Arg437Ile
NM_025145.6:c.3410G>T	NP_079421.5:p.Arg1137Ile
XM_005270171.2:c.3413G>T	XP_005270228.1:p.Arg1138Ile
XM_005270172.3:c.3413G>T	XP_005270229.1:p.Arg1138Ile
XM_011540196.2:c.3527G>T	XP_011538498.1:p.Arg1176Ile
XM_011540197.2:c.3527G>T	XP_011538499.1:p.Arg1176Ile
XM_011540198.2:c.3410G>T	XP_011538500.1:p.Arg1137Ile
XM_011540199.2:c.3410G>T	XP_011538501.1:p.Arg1137Ile
XM_011540200.2:c.3527G>T	XP_011538502.1:p.Arg1176Ile
XM_011540201.2:c.3527G>T	XP_011538503.1:p.Arg1176Ile
XM_011540202.2:c.2756G>T	XP_011538504.1:p.Arg919Ile
XM_017016681.1:c.3524G>T	XP_016872170.1:p.Arg1175Ile
XM_017016682.1:c.3179G>T	XP_016872171.1:p.Arg1060Ile
XM_024448177.1:c.1913G>T	XP_024303945.1:p.Arg638Ile
XM_024448178.1:c.1310G>T	XP_024303946.1:p.Arg437Ile
XR_002957015.1:n.3296G>T
NM_025145.7:c.3410G>T MANE Select	NP_079421.5:p.Arg1137Ile