Canonical Allele Identifier: CA378091676

Gene: CFAP43

Linked Data

• dbSNP Id: rs2088898651
• gnomAD v4: 10-104161962-A-G
• MyVariant Identifiers: chr10:g.105921720A>G (hg19) ; chr10:g.104161962A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104161962A>G , CM000672.2:g.104161962A>G	GRCh38
NC_000010.10:g.105921720A>G , CM000672.1:g.105921720A>G	GRCh37
NC_000010.9:g.105911710A>G	NCBI36
NG_051581.1:g.75416T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357060.8:c.3413T>C MANE Select	ENSP00000349568.3:p.Met1138Thr
ENST00000357060.7:c.3413T>C	ENSP00000349568.3:p.Met1138Thr
ENST00000434629.5:c.1495T>C
NM_025145.5:c.3413T>C	NP_079421.5:p.Met1138Thr
XM_005270171.1:c.3416T>C	XP_005270228.1:p.Met1139Thr
XM_005270172.2:c.3416T>C	XP_005270229.1:p.Met1139Thr
XM_011540196.1:c.3530T>C	XP_011538498.1:p.Met1177Thr
XM_011540197.1:c.3530T>C	XP_011538499.1:p.Met1177Thr
XM_011540198.1:c.3413T>C	XP_011538500.1:p.Met1138Thr
XM_011540199.1:c.3413T>C	XP_011538501.1:p.Met1138Thr
XM_011540200.1:c.3530T>C	XP_011538502.1:p.Met1177Thr
XM_011540201.1:c.3530T>C	XP_011538503.1:p.Met1177Thr
XM_011540202.1:c.2759T>C	XP_011538504.1:p.Met920Thr
XM_011540203.1:c.1313T>C	XP_011538505.1:p.Met438Thr
NM_025145.6:c.3413T>C	NP_079421.5:p.Met1138Thr
XM_005270171.2:c.3416T>C	XP_005270228.1:p.Met1139Thr
XM_005270172.3:c.3416T>C	XP_005270229.1:p.Met1139Thr
XM_011540196.2:c.3530T>C	XP_011538498.1:p.Met1177Thr
XM_011540197.2:c.3530T>C	XP_011538499.1:p.Met1177Thr
XM_011540198.2:c.3413T>C	XP_011538500.1:p.Met1138Thr
XM_011540199.2:c.3413T>C	XP_011538501.1:p.Met1138Thr
XM_011540200.2:c.3530T>C	XP_011538502.1:p.Met1177Thr
XM_011540201.2:c.3530T>C	XP_011538503.1:p.Met1177Thr
XM_011540202.2:c.2759T>C	XP_011538504.1:p.Met920Thr
XM_017016681.1:c.3527T>C	XP_016872170.1:p.Met1176Thr
XM_017016682.1:c.3182T>C	XP_016872171.1:p.Met1061Thr
XM_024448177.1:c.1916T>C	XP_024303945.1:p.Met639Thr
XM_024448178.1:c.1313T>C	XP_024303946.1:p.Met438Thr
XR_002957015.1:n.3299T>C
NM_025145.7:c.3413T>C MANE Select	NP_079421.5:p.Met1138Thr