Canonical Allele Identifier: CA658795391
Gene: MTHFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794400G= , CM000663.2:g.11794400G= GRCh38
NC_000001.10:g.11854457G= , CM000663.1:g.11854457G= GRCh37
NC_000001.9:g.11777044G= NCBI36
NG_013351.1:g.16704C= , LRG_726:g.16704C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1428C= ENSP00000365770.1:p.Phe476=
ENST00000376590.9:c.1305C= MANE Select ENSP00000365775.3:p.Phe435=
ENST00000376592.6:c.1305C= ENSP00000365777.1:p.Phe435=
ENST00000423400.7:c.1425C= ENSP00000398908.3:p.Phe475=
ENST00000641407.1:c.1305C= ENSP00000493098.1:p.Phe435=
ENST00000641446.1:c.1305C= ENSP00000493262.1:p.Phe435=
ENST00000641747.1:c.*817C= ENSP00000493116.1:n.*817C=
ENST00000641759.1:n.1674C=
ENST00000641805.1:n.1822C=
ENST00000641820.1:c.570C= ENSP00000492937.1:p.Phe190=
ENST00000376583.7:c.1428C= ENSP00000365767.3:p.Phe476=
ENST00000376585.5:c.1428C= ENSP00000365770.1:p.Phe476=
ENST00000376590.7:c.1305C= ENSP00000365775.3:p.Phe435=
ENST00000376592.5:c.1305C= ENSP00000365777.1:p.Phe435=
NM_005957.4:c.1305C= , LRG_726t1:c.1305C= NP_005948.3:p.Phe435=
XM_005263458.2:c.1428C= XP_005263515.1:p.Phe476=
XM_005263460.3:c.1305C= XP_005263517.1:p.Phe435=
XM_005263461.3:c.1305C= XP_005263518.1:p.Phe435=
XM_005263462.3:c.1305C= XP_005263519.1:p.Phe435=
XM_005263463.2:c.1059C= XP_005263520.1:p.Phe353=
XM_011541495.1:c.1425C= XP_011539797.1:p.Phe475=
XM_011541496.1:c.1428C= XP_011539798.1:p.Phe476=
NM_001330358.1:c.1428C= NP_001317287.1:p.Phe476=
XM_005263460.5:c.1305C= XP_005263517.1:p.Phe435=
XM_005263462.4:c.1305C= XP_005263519.1:p.Phe435=
XM_005263463.4:c.1059C= XP_005263520.1:p.Phe353=
XM_011541495.3:c.1425C= XP_011539797.1:p.Phe475=
XM_011541496.3:c.1428C= XP_011539798.1:p.Phe476=
XM_017001328.2:c.1428C= XP_016856817.1:p.Phe476=
XM_024447198.1:c.1059C= XP_024302966.1:p.Phe353=
XR_002956640.1:n.2406C=
NM_005957.5:c.1305C= MANE Select NP_005948.3:p.Phe435=
NM_001330358.2:c.1428C= NP_001317287.1:p.Phe476=