Canonical Allele Identifier: CA2643295206
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794428del , CM000663.2:g.11794428del GRCh38
NC_000001.10:g.11854485del , CM000663.1:g.11854485del GRCh37
NC_000001.9:g.11777072del NCBI36
NG_013351.1:g.16677del , LRG_726:g.16677del

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1401del ENSP00000365770.1:p.Ser468ValfsTer24
ENST00000376590.9:c.1278del MANE Select ENSP00000365775.3:p.Ser427ValfsTer24
ENST00000376592.6:c.1278del ENSP00000365777.1:p.Ser427ValfsTer24
ENST00000423400.7:c.1398del ENSP00000398908.3:p.Ser467ValfsTer24
ENST00000641407.1:c.1278del ENSP00000493098.1:p.Ser427ValfsTer24
ENST00000641446.1:c.1278del ENSP00000493262.1:p.Ser427ValfsTer24
ENST00000641747.1:c.*790del ENSP00000493116.1:n.*790del
ENST00000641759.1:n.1647del
ENST00000641805.1:n.1795del
ENST00000641820.1:c.543del ENSP00000492937.1:p.Ser182ValfsTer24
ENST00000376583.7:c.1401del ENSP00000365767.3:p.Ser468ValfsTer24
ENST00000376585.5:c.1401del ENSP00000365770.1:p.Ser468ValfsTer24
ENST00000376590.7:c.1278del ENSP00000365775.3:p.Ser427ValfsTer24
ENST00000376592.5:c.1278del ENSP00000365777.1:p.Ser427ValfsTer24
NM_005957.4:c.1278del , LRG_726t1:c.1278del NP_005948.3:p.Ser427ValfsTer24
XM_005263458.2:c.1401del XP_005263515.1:p.Ser468ValfsTer24
XM_005263460.3:c.1278del XP_005263517.1:p.Ser427ValfsTer24
XM_005263461.3:c.1278del XP_005263518.1:p.Ser427ValfsTer24
XM_005263462.3:c.1278del XP_005263519.1:p.Ser427ValfsTer24
XM_005263463.2:c.1032del XP_005263520.1:p.Ser345ValfsTer24
XM_011541495.1:c.1398del XP_011539797.1:p.Ser467ValfsTer24
XM_011541496.1:c.1401del XP_011539798.1:p.Ser468ValfsTer24
NM_001330358.1:c.1401del NP_001317287.1:p.Ser468ValfsTer24
XM_005263460.5:c.1278del XP_005263517.1:p.Ser427ValfsTer24
XM_005263462.4:c.1278del XP_005263519.1:p.Ser427ValfsTer24
XM_005263463.4:c.1032del XP_005263520.1:p.Ser345ValfsTer24
XM_011541495.3:c.1398del XP_011539797.1:p.Ser467ValfsTer24
XM_011541496.3:c.1401del XP_011539798.1:p.Ser468ValfsTer24
XM_017001328.2:c.1401del XP_016856817.1:p.Ser468ValfsTer24
XM_024447198.1:c.1032del XP_024302966.1:p.Ser345ValfsTer24
XR_002956640.1:n.2379del
NM_005957.5:c.1278del MANE Select NP_005948.3:p.Ser427ValfsTer24
NM_001330358.2:c.1401del NP_001317287.1:p.Ser468ValfsTer24