Canonical Allele Identifier: CA1153811803

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800784_11800786delinsGCG , CM000663.2:g.11800784_11800786delinsGCG	GRCh38
NC_000001.10:g.11860841_11860843delinsGCG , CM000663.1:g.11860841_11860843delinsGCG	GRCh37
NC_000001.9:g.11783428_11783430delinsGCG	NCBI36
NG_013351.1:g.10318_10320delinsCGC , LRG_726:g.10318_10320delinsCGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.475+375_475+377delinsCGC	ENSP00000365669.3:n.475+375_475+377delins...
ENST00000376585.6:c.598+375_598+377delinsCGC	ENSP00000365770.1:n.598+375_598+377delins...
ENST00000376590.9:c.475+375_475+377delinsCGC MANE Select	ENSP00000365775.3:n.475+375_475+377delins...
ENST00000376592.6:c.475+375_475+377delinsCGC	ENSP00000365777.1:n.475+375_475+377delins...
ENST00000423400.7:c.595+375_595+377delinsCGC	ENSP00000398908.3:n.595+375_595+377delins...
ENST00000641407.1:c.475+375_475+377delinsCGC	ENSP00000493098.1:n.475+375_475+377delins...
ENST00000641437.1:n.982_984delinsCGC
ENST00000641446.1:c.475+375_475+377delinsCGC	ENSP00000493262.1:n.475+375_475+377delins...
ENST00000641721.1:n.532+375_532+377delinsCGC
ENST00000641747.1:c.237-464_237-462delinsCGC	ENSP00000493116.1:n.237-464_237-462delins...
ENST00000641759.1:n.610+375_610+377delinsCGC
ENST00000641805.1:n.758+375_758+377delinsCGC
ENST00000641909.1:n.1260_1262delinsCGC
ENST00000376583.7:c.598+375_598+377delinsCGC	ENSP00000365767.3:n.598+375_598+377delins...
ENST00000376585.5:c.598+375_598+377delinsCGC	ENSP00000365770.1:n.598+375_598+377delins...
ENST00000376590.7:c.475+375_475+377delinsCGC	ENSP00000365775.3:n.475+375_475+377delins...
ENST00000376592.5:c.475+375_475+377delinsCGC	ENSP00000365777.1:n.475+375_475+377delins...
NM_005957.4:c.475+375_475+377delinsCGC , LRG_726t1:c.475+375_475+377delinsCGC	NP_005948.3:n.475+375_475+377delinsCGC
XM_005263458.2:c.598+375_598+377delinsCGC	XP_005263515.1:n.598+375_598+377delinsCGC...
XM_005263460.3:c.475+375_475+377delinsCGC	XP_005263517.1:n.475+375_475+377delinsCGC...
XM_005263461.3:c.475+375_475+377delinsCGC	XP_005263518.1:n.475+375_475+377delinsCGC...
XM_005263462.3:c.475+375_475+377delinsCGC	XP_005263519.1:n.475+375_475+377delinsCGC...
XM_005263463.2:c.229+375_229+377delinsCGC	XP_005263520.1:n.229+375_229+377delinsCGC...
XM_011541495.1:c.595+375_595+377delinsCGC	XP_011539797.1:n.595+375_595+377delinsCGC...
XM_011541496.1:c.598+375_598+377delinsCGC	XP_011539798.1:n.598+375_598+377delinsCGC...
NM_001330358.1:c.598+375_598+377delinsCGC	NP_001317287.1:n.598+375_598+377delinsCGC...
XM_005263460.5:c.475+375_475+377delinsCGC	XP_005263517.1:n.475+375_475+377delinsCGC...
XM_005263462.4:c.475+375_475+377delinsCGC	XP_005263519.1:n.475+375_475+377delinsCGC...
XM_005263463.4:c.229+375_229+377delinsCGC	XP_005263520.1:n.229+375_229+377delinsCGC...
XM_011541495.3:c.595+375_595+377delinsCGC	XP_011539797.1:n.595+375_595+377delinsCGC...
XM_011541496.3:c.598+375_598+377delinsCGC	XP_011539798.1:n.598+375_598+377delinsCGC...
XM_017001328.2:c.598+375_598+377delinsCGC	XP_016856817.1:n.598+375_598+377delinsCGC...
XM_024447198.1:c.229+375_229+377delinsCGC	XP_024302966.1:n.229+375_229+377delinsCGC...
XR_002956640.1:n.1342+375_1342+377delinsCGC
NM_005957.5:c.475+375_475+377delinsCGC MANE Select	NP_005948.3:n.475+375_475+377delinsCGC
NM_001330358.2:c.598+375_598+377delinsCGC	NP_001317287.1:n.598+375_598+377delinsCGC...