Canonical Allele Identifier: CA532905
Community Standard Title: NM_001304360.2(CFAP74):c.4331G>C (p.Ser1444Thr)
Gene: CFAP74 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.1923833C>G , CM000663.2:g.1923833C>G GRCh38
NC_000001.10:g.1855272C>G , CM000663.1:g.1855272C>G GRCh37
NC_000001.9:g.1845132C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001304360.2:c.4331G>C MANE Select NP_001291289.1:p.Ser1444Thr
ENST00000682832.2:c.4331G>C MANE Select ENSP00000508276.2:p.Ser1444Thr
NM_001304360.1:c.4331G>C NP_001291289.1:p.Ser1444Thr
ENST00000412120.2:n.1179G>C
ENST00000464311.5:n.1837G>C
ENST00000493964.5:c.4331G>C ENSP00000417061.2:p.Ser1444Thr
ENST00000642590.1:c.2581G>C
XM_006710998.2:c.4073G>C XP_006711061.1:p.Ser1358Thr
XM_011542331.1:c.4331G>C XP_011540633.1:p.Ser1444Thr
XM_011542332.1:c.4331G>C XP_011540634.1:p.Ser1444Thr
XM_011542333.1:c.4088G>C XP_011540635.1:p.Ser1363Thr
XM_011542333.2:c.4400G>C XP_011540635.2:p.Ser1467Thr
XM_011542334.1:c.3845G>C XP_011540636.1:p.Ser1282Thr
XM_011542335.1:c.3824G>C XP_011540637.1:p.Ser1275Thr
XM_011542336.1:c.3824G>C XP_011540638.1:p.Ser1275Thr
XM_011542336.3:c.3824G>C XP_011540638.1:p.Ser1275Thr
XM_011542337.1:c.3824G>C XP_011540639.1:p.Ser1275Thr
XM_011542338.1:c.2693G>C XP_011540640.1:p.Ser898Thr
XM_017002641.1:c.4457G>C XP_016858130.1:p.Ser1486Thr
XM_017002642.1:c.4457G>C XP_016858131.1:p.Ser1486Thr
XM_017002643.1:c.4457G>C XP_016858132.1:p.Ser1486Thr
XM_017002644.2:c.1889G>C XP_016858133.1:p.Ser630Thr