Canonical Allele Identifier: CA1153791439
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790886C= , CM000663.2:g.11790886C= GRCh38
NC_000001.10:g.11850943C= , CM000663.1:g.11850943C= GRCh37
NC_000001.9:g.11773530C= NCBI36
NG_013351.1:g.20218G= , LRG_726:g.20218G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1888G= ENSP00000365770.1:p.Ala630=
ENST00000376590.9:c.1765G= MANE Select ENSP00000365775.3:p.Ala589=
ENST00000376592.6:c.1765G= ENSP00000365777.1:p.Ala589=
ENST00000423400.7:c.1885G= ENSP00000398908.3:p.Ala629=
ENST00000641407.1:c.1753-170G= ENSP00000493098.1:n.1753-170G=
ENST00000641446.1:c.*224G= ENSP00000493262.1:n.*224G=
ENST00000641747.1:c.*1277G= ENSP00000493116.1:n.*1277G=
ENST00000641759.1:n.2134G=
ENST00000641805.1:n.2270-170G=
ENST00000641820.1:c.1030G= ENSP00000492937.1:p.Ala344=
ENST00000376583.7:c.1888G= ENSP00000365767.3:p.Ala630=
ENST00000376585.5:c.1888G= ENSP00000365770.1:p.Ala630=
ENST00000376590.7:c.1765G= ENSP00000365775.3:p.Ala589=
ENST00000376592.5:c.1765G= ENSP00000365777.1:p.Ala589=
NM_005957.4:c.1765G= , LRG_726t1:c.1765G= NP_005948.3:p.Ala589=
XM_005263458.2:c.1888G= XP_005263515.1:p.Ala630=
XM_005263460.3:c.1765G= XP_005263517.1:p.Ala589=
XM_005263461.3:c.1765G= XP_005263518.1:p.Ala589=
XM_005263462.3:c.1765G= XP_005263519.1:p.Ala589=
XM_005263463.2:c.1519G= XP_005263520.1:p.Ala507=
XM_011541495.1:c.1885G= XP_011539797.1:p.Ala629=
XM_011541496.1:c.1876-170G= XP_011539798.1:n.1876-170G=
NM_001330358.1:c.1888G= NP_001317287.1:p.Ala630=
XM_005263460.5:c.1765G= XP_005263517.1:p.Ala589=
XM_005263462.4:c.1765G= XP_005263519.1:p.Ala589=
XM_005263463.4:c.1519G= XP_005263520.1:p.Ala507=
XM_011541495.3:c.1885G= XP_011539797.1:p.Ala629=
XM_011541496.3:c.1876-170G= XP_011539798.1:n.1876-170G=
XM_017001328.2:c.1876-138G= XP_016856817.1:n.1876-138G=
XM_024447198.1:c.1519G= XP_024302966.1:p.Ala507=
XR_002956640.1:n.2854-170G=
NM_005957.5:c.1765G= MANE Select NP_005948.3:p.Ala589=
NM_001330358.2:c.1888G= NP_001317287.1:p.Ala630=