Canonical Allele Identifier: CA416362298

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2704211
• ClinVar RCV Id: RCV003524056
• MyVariant Identifiers: chr1:g.11855259A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795202A>G , CM000663.2:g.11795202A>G	GRCh38
NC_000001.10:g.11855259A>G , CM000663.1:g.11855259A>G	GRCh37
NC_000001.9:g.11777846A>G	NCBI36
NG_013351.1:g.15902T>C , LRG_726:g.15902T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1050T>C	ENSP00000365770.1:p.Leu350=
ENST00000376590.9:c.927T>C MANE Select	ENSP00000365775.3:p.Leu309=
ENST00000376592.6:c.927T>C	ENSP00000365777.1:p.Leu309=
ENST00000423400.7:c.1047T>C	ENSP00000398908.3:p.Leu349=
ENST00000641407.1:c.927T>C	ENSP00000493098.1:p.Leu309=
ENST00000641446.1:c.927T>C	ENSP00000493262.1:p.Leu309=
ENST00000641721.1:n.790T>C
ENST00000641747.1:c.*439T>C	ENSP00000493116.1:n.*439T>C
ENST00000641759.1:n.1062T>C
ENST00000641805.1:n.1210T>C
ENST00000641820.1:c.192T>C	ENSP00000492937.1:p.Leu64=
ENST00000376583.7:c.1050T>C	ENSP00000365767.3:p.Leu350=
ENST00000376585.5:c.1050T>C	ENSP00000365770.1:p.Leu350=
ENST00000376590.7:c.927T>C	ENSP00000365775.3:p.Leu309=
ENST00000376592.5:c.927T>C	ENSP00000365777.1:p.Leu309=
NM_005957.4:c.927T>C , LRG_726t1:c.927T>C	NP_005948.3:p.Leu309=
XM_005263458.2:c.1050T>C	XP_005263515.1:p.Leu350=
XM_005263460.3:c.927T>C	XP_005263517.1:p.Leu309=
XM_005263461.3:c.927T>C	XP_005263518.1:p.Leu309=
XM_005263462.3:c.927T>C	XP_005263519.1:p.Leu309=
XM_005263463.2:c.681T>C	XP_005263520.1:p.Leu227=
XM_011541495.1:c.1047T>C	XP_011539797.1:p.Leu349=
XM_011541496.1:c.1050T>C	XP_011539798.1:p.Leu350=
NM_001330358.1:c.1050T>C	NP_001317287.1:p.Leu350=
XM_005263460.5:c.927T>C	XP_005263517.1:p.Leu309=
XM_005263462.4:c.927T>C	XP_005263519.1:p.Leu309=
XM_005263463.4:c.681T>C	XP_005263520.1:p.Leu227=
XM_011541495.3:c.1047T>C	XP_011539797.1:p.Leu349=
XM_011541496.3:c.1050T>C	XP_011539798.1:p.Leu350=
XM_017001328.2:c.1050T>C	XP_016856817.1:p.Leu350=
XM_024447198.1:c.681T>C	XP_024302966.1:p.Leu227=
XR_002956640.1:n.1794T>C
NM_005957.5:c.927T>C MANE Select	NP_005948.3:p.Leu309=
NM_001330358.2:c.1050T>C	NP_001317287.1:p.Leu350=