Canonical Allele Identifier: CA416120789
Gene: MTHFR HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.11856299G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796242G>A , CM000663.2:g.11796242G>A GRCh38
NC_000001.10:g.11856299G>A , CM000663.1:g.11856299G>A GRCh37
NC_000001.9:g.11778886G>A NCBI36
NG_013351.1:g.14862C>T , LRG_726:g.14862C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.867C>T ENSP00000365770.1:p.Ile289=
ENST00000376590.9:c.744C>T MANE Select ENSP00000365775.3:p.Ile248=
ENST00000376592.6:c.744C>T ENSP00000365777.1:p.Ile248=
ENST00000423400.7:c.864C>T ENSP00000398908.3:p.Ile288=
ENST00000641407.1:c.744C>T ENSP00000493098.1:p.Ile248=
ENST00000641446.1:c.744C>T ENSP00000493262.1:p.Ile248=
ENST00000641721.1:n.644-894C>T
ENST00000641747.1:c.*256C>T ENSP00000493116.1:n.*256C>T
ENST00000641759.1:n.879C>T
ENST00000641805.1:n.1027C>T
ENST00000641820.1:c.9C>T ENSP00000492937.1:p.Ile3=
ENST00000376583.7:c.867C>T ENSP00000365767.3:p.Ile289=
ENST00000376585.5:c.867C>T ENSP00000365770.1:p.Ile289=
ENST00000376590.7:c.744C>T ENSP00000365775.3:p.Ile248=
ENST00000376592.5:c.744C>T ENSP00000365777.1:p.Ile248=
NM_005957.4:c.744C>T , LRG_726t1:c.744C>T NP_005948.3:p.Ile248=
XM_005263458.2:c.867C>T XP_005263515.1:p.Ile289=
XM_005263460.3:c.744C>T XP_005263517.1:p.Ile248=
XM_005263461.3:c.744C>T XP_005263518.1:p.Ile248=
XM_005263462.3:c.744C>T XP_005263519.1:p.Ile248=
XM_005263463.2:c.498C>T XP_005263520.1:p.Ile166=
XM_011541495.1:c.864C>T XP_011539797.1:p.Ile288=
XM_011541496.1:c.867C>T XP_011539798.1:p.Ile289=
NM_001330358.1:c.867C>T NP_001317287.1:p.Ile289=
XM_005263460.5:c.744C>T XP_005263517.1:p.Ile248=
XM_005263462.4:c.744C>T XP_005263519.1:p.Ile248=
XM_005263463.4:c.498C>T XP_005263520.1:p.Ile166=
XM_011541495.3:c.864C>T XP_011539797.1:p.Ile288=
XM_011541496.3:c.867C>T XP_011539798.1:p.Ile289=
XM_017001328.2:c.867C>T XP_016856817.1:p.Ile289=
XM_024447198.1:c.498C>T XP_024302966.1:p.Ile166=
XR_002956640.1:n.1611C>T
NM_005957.5:c.744C>T MANE Select NP_005948.3:p.Ile248=
NM_001330358.2:c.867C>T NP_001317287.1:p.Ile289=