Canonical Allele Identifier: CA416119552
Gene: MTHFR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11850815G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790758G>A , CM000663.2:g.11790758G>A GRCh38
NC_000001.10:g.11850815G>A , CM000663.1:g.11850815G>A GRCh37
NC_000001.9:g.11773402G>A NCBI36
NG_013351.1:g.20346C>T , LRG_726:g.20346C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.2016C>T ENSP00000365770.1:p.Cys672=
ENST00000376590.9:c.1893C>T MANE Select ENSP00000365775.3:p.Cys631=
ENST00000376592.6:c.1893C>T ENSP00000365777.1:p.Cys631=
ENST00000423400.7:c.2013C>T ENSP00000398908.3:p.Cys671=
ENST00000641407.1:c.1753-42C>T ENSP00000493098.1:n.1753-42C>T
ENST00000641446.1:c.*352C>T ENSP00000493262.1:n.*352C>T
ENST00000641747.1:c.*1405C>T ENSP00000493116.1:n.*1405C>T
ENST00000641759.1:n.2262C>T
ENST00000641805.1:n.2270-42C>T
ENST00000641820.1:c.1158C>T ENSP00000492937.1:p.Cys386=
ENST00000376583.7:c.2016C>T ENSP00000365767.3:p.Cys672=
ENST00000376585.5:c.2016C>T ENSP00000365770.1:p.Cys672=
ENST00000376590.7:c.1893C>T ENSP00000365775.3:p.Cys631=
ENST00000376592.5:c.1893C>T ENSP00000365777.1:p.Cys631=
NM_005957.4:c.1893C>T , LRG_726t1:c.1893C>T NP_005948.3:p.Cys631=
XM_005263458.2:c.2016C>T XP_005263515.1:p.Cys672=
XM_005263460.3:c.1893C>T XP_005263517.1:p.Cys631=
XM_005263461.3:c.1893C>T XP_005263518.1:p.Cys631=
XM_005263462.3:c.1893C>T XP_005263519.1:p.Cys631=
XM_005263463.2:c.1647C>T XP_005263520.1:p.Cys549=
XM_011541495.1:c.2013C>T XP_011539797.1:p.Cys671=
XM_011541496.1:c.1876-42C>T XP_011539798.1:n.1876-42C>T
NM_001330358.1:c.2016C>T NP_001317287.1:p.Cys672=
XM_005263460.5:c.1893C>T XP_005263517.1:p.Cys631=
XM_005263462.4:c.1893C>T XP_005263519.1:p.Cys631=
XM_005263463.4:c.1647C>T XP_005263520.1:p.Cys549=
XM_011541495.3:c.2013C>T XP_011539797.1:p.Cys671=
XM_011541496.3:c.1876-42C>T XP_011539798.1:n.1876-42C>T
XM_017001328.2:c.1876-10C>T XP_016856817.1:n.1876-10C>T
XM_024447198.1:c.1647C>T XP_024302966.1:p.Cys549=
XR_002956640.1:n.2854-42C>T
NM_005957.5:c.1893C>T MANE Select NP_005948.3:p.Cys631=
NM_001330358.2:c.2016C>T NP_001317287.1:p.Cys672=