Canonical Allele Identifier: CA416095040

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11860306T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800249T>C , CM000663.2:g.11800249T>C	GRCh38
NC_000001.10:g.11860306T>C , CM000663.1:g.11860306T>C	GRCh37
NC_000001.9:g.11782893T>C	NCBI36
NG_013351.1:g.10855A>G , LRG_726:g.10855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.549A>G	ENSP00000365669.3:p.Arg183=
ENST00000376585.6:c.672A>G	ENSP00000365770.1:p.Arg224=
ENST00000376590.9:c.549A>G MANE Select	ENSP00000365775.3:p.Arg183=
ENST00000376592.6:c.549A>G	ENSP00000365777.1:p.Arg183=
ENST00000423400.7:c.669A>G	ENSP00000398908.3:p.Arg223=
ENST00000641407.1:c.549A>G	ENSP00000493098.1:p.Arg183=
ENST00000641437.1:n.1519A>G
ENST00000641446.1:c.549A>G	ENSP00000493262.1:p.Arg183=
ENST00000641721.1:n.606A>G
ENST00000641747.1:c.*61A>G	ENSP00000493116.1:n.*61A>G
ENST00000641759.1:n.684A>G
ENST00000641805.1:n.832A>G
ENST00000641909.1:n.1797A>G
ENST00000376583.7:c.672A>G	ENSP00000365767.3:p.Arg224=
ENST00000376585.5:c.672A>G	ENSP00000365770.1:p.Arg224=
ENST00000376590.7:c.549A>G	ENSP00000365775.3:p.Arg183=
ENST00000376592.5:c.549A>G	ENSP00000365777.1:p.Arg183=
NM_005957.4:c.549A>G , LRG_726t1:c.549A>G	NP_005948.3:p.Arg183=
XM_005263458.2:c.672A>G	XP_005263515.1:p.Arg224=
XM_005263460.3:c.549A>G	XP_005263517.1:p.Arg183=
XM_005263461.3:c.549A>G	XP_005263518.1:p.Arg183=
XM_005263462.3:c.549A>G	XP_005263519.1:p.Arg183=
XM_005263463.2:c.303A>G	XP_005263520.1:p.Arg101=
XM_011541495.1:c.669A>G	XP_011539797.1:p.Arg223=
XM_011541496.1:c.672A>G	XP_011539798.1:p.Arg224=
NM_001330358.1:c.672A>G	NP_001317287.1:p.Arg224=
XM_005263460.5:c.549A>G	XP_005263517.1:p.Arg183=
XM_005263462.4:c.549A>G	XP_005263519.1:p.Arg183=
XM_005263463.4:c.303A>G	XP_005263520.1:p.Arg101=
XM_011541495.3:c.669A>G	XP_011539797.1:p.Arg223=
XM_011541496.3:c.672A>G	XP_011539798.1:p.Arg224=
XM_017001328.2:c.672A>G	XP_016856817.1:p.Arg224=
XM_024447198.1:c.303A>G	XP_024302966.1:p.Arg101=
XR_002956640.1:n.1416A>G
NM_005957.5:c.549A>G MANE Select	NP_005948.3:p.Arg183=
NM_001330358.2:c.672A>G	NP_001317287.1:p.Arg224=