Canonical Allele Identifier: CA358754709
Gene: MFAP3L HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.170005778T>C , CM000666.2:g.170005778T>C GRCh38
NC_000004.11:g.170926929T>C , CM000666.1:g.170926929T>C GRCh37
NC_000004.10:g.171163504T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000361618.4:c.100A>G MANE Select ENSP00000354583.3:p.Ser34Gly
ENST00000361618.3:c.100A>G ENSP00000354583.3:p.Ser34Gly
ENST00000393702.7:c.100A>G ENSP00000377305.2:p.Ser34Gly
ENST00000504999.1:c.100A>G ENSP00000425303.1:p.Ser34Gly
ENST00000506110.1:c.100A>G ENSP00000422571.1:p.Ser34Gly
ENST00000506764.1:c.100A>G ENSP00000426247.1:p.Ser34Gly
ENST00000507601.1:c.-160+37A>G ENSP00000423802.1:n.-160+37A>G
ENST00000510306.1:c.100A>G ENSP00000423549.1:p.Ser34Gly
ENST00000512698.1:c.-11-13469A>G ENSP00000422791.1:n.-11-13469A>G
NM_001301647.1:c.-11-13469A>G NP_001288576.1:n.-11-13469A>G
NM_021647.7:c.100A>G NP_067679.6:p.Ser34Gly
XM_005263366.2:c.199A>G XP_005263423.1:p.Ser67Gly
XM_011532428.1:c.199A>G XP_011530730.1:p.Ser67Gly
XM_011532429.1:c.178A>G XP_011530731.1:p.Ser60Gly
XM_011532430.1:c.178A>G XP_011530732.1:p.Ser60Gly
XM_011532431.1:c.178A>G XP_011530733.1:p.Ser60Gly
XM_011532432.1:c.100A>G XP_011530734.1:p.Ser34Gly
XM_011532433.1:c.100A>G XP_011530735.1:p.Ser34Gly
XM_005263366.3:c.199A>G XP_005263423.1:p.Ser67Gly
XM_017008864.2:c.178A>G XP_016864353.1:p.Ser60Gly
XM_017008865.2:c.178A>G XP_016864354.1:p.Ser60Gly
XM_017008866.1:c.178A>G XP_016864355.1:p.Ser60Gly
XM_017008867.2:c.178A>G XP_016864356.1:p.Ser60Gly
XM_017008868.1:c.100A>G XP_016864357.1:p.Ser34Gly
XM_017008869.2:c.100A>G XP_016864358.1:p.Ser34Gly
XM_017008870.2:c.100A>G XP_016864359.1:p.Ser34Gly
XM_017008871.1:c.100A>G XP_016864360.1:p.Ser34Gly
NM_021647.8:c.100A>G MANE Select NP_067679.6:p.Ser34Gly
NM_001301647.2:c.-11-13469A>G NP_001288576.1:n.-11-13469A>G