Canonical Allele Identifier: CA1145614904
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11802031C= , CM000663.2:g.11802031C= GRCh38
NC_000001.10:g.11862088C= , CM000663.1:g.11862088C= GRCh37
NC_000001.9:g.11784675C= NCBI36
NG_008766.1:g.882C=
NG_013351.1:g.9073G= , LRG_726:g.9073G=

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.237-632G= ENSP00000365669.3:n.237-632G=
ENST00000376585.6:c.360-632G= ENSP00000365770.1:n.360-632G=
ENST00000376590.9:c.237-632G= MANE Select ENSP00000365775.3:n.237-632G=
ENST00000376592.6:c.237-632G= ENSP00000365777.1:n.237-632G=
ENST00000423400.7:c.357-632G= ENSP00000398908.3:n.357-632G=
ENST00000431243.6:n.1018-615G=
ENST00000641407.1:c.237-632G= ENSP00000493098.1:n.237-632G=
ENST00000641437.1:n.369-632G=
ENST00000641446.1:c.237-632G= ENSP00000493262.1:n.237-632G=
ENST00000641721.1:n.294-632G=
ENST00000641747.1:c.236+850G= ENSP00000493116.1:n.236+850G=
ENST00000641759.1:n.372-632G=
ENST00000641805.1:n.520-632G=
ENST00000641909.1:n.647-632G=
ENST00000642002.1:n.466-615G=
ENST00000376583.7:c.360-632G= ENSP00000365767.3:n.360-632G=
ENST00000376585.5:c.360-632G= ENSP00000365770.1:n.360-632G=
ENST00000376590.7:c.237-632G= ENSP00000365775.3:n.237-632G=
ENST00000376592.5:c.237-632G= ENSP00000365777.1:n.237-632G=
ENST00000418034.1:c.237-632G= ENSP00000405082.1:n.237-632G=
NM_005957.4:c.237-632G= , LRG_726t1:c.237-632G= NP_005948.3:n.237-632G=
XM_005263458.2:c.360-632G= XP_005263515.1:n.360-632G=
XM_005263460.3:c.237-632G= XP_005263517.1:n.237-632G=
XM_005263461.3:c.237-632G= XP_005263518.1:n.237-632G=
XM_005263462.3:c.237-632G= XP_005263519.1:n.237-632G=
XM_005263463.2:c.-27-615G= XP_005263520.1:n.-27-615G=
XM_011541495.1:c.357-632G= XP_011539797.1:n.357-632G=
XM_011541496.1:c.360-632G= XP_011539798.1:n.360-632G=
NM_001330358.1:c.360-632G= NP_001317287.1:n.360-632G=
XM_005263460.5:c.237-632G= XP_005263517.1:n.237-632G=
XM_005263462.4:c.237-632G= XP_005263519.1:n.237-632G=
XM_005263463.4:c.-27-615G= XP_005263520.1:n.-27-615G=
XM_011541495.3:c.357-632G= XP_011539797.1:n.357-632G=
XM_011541496.3:c.360-632G= XP_011539798.1:n.360-632G=
XM_017001328.2:c.360-632G= XP_016856817.1:n.360-632G=
XM_024447198.1:c.-27-615G= XP_024302966.1:n.-27-615G=
XR_002956640.1:n.1104-632G=
NM_005957.5:c.237-632G= MANE Select NP_005948.3:n.237-632G=
NM_001330358.2:c.360-632G= NP_001317287.1:n.360-632G=