Canonical Allele Identifier: CA338473941

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11850916G>C (hg19) ; chr1:g.11790859G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790859G>C , CM000663.2:g.11790859G>C	GRCh38
NC_000001.10:g.11850916G>C , CM000663.1:g.11850916G>C	GRCh37
NC_000001.9:g.11773503G>C	NCBI36
NG_013351.1:g.20245C>G , LRG_726:g.20245C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1915C>G	ENSP00000365770.1:p.Leu639Val
ENST00000376590.9:c.1792C>G MANE Select	ENSP00000365775.3:p.Leu598Val
ENST00000376592.6:c.1792C>G	ENSP00000365777.1:p.Leu598Val
ENST00000423400.7:c.1912C>G	ENSP00000398908.3:p.Leu638Val
ENST00000641407.1:c.1753-143C>G	ENSP00000493098.1:n.1753-143C>G
ENST00000641446.1:c.*251C>G	ENSP00000493262.1:n.*251C>G
ENST00000641747.1:c.*1304C>G	ENSP00000493116.1:n.*1304C>G
ENST00000641759.1:n.2161C>G
ENST00000641805.1:n.2270-143C>G
ENST00000641820.1:c.1057C>G	ENSP00000492937.1:p.Leu353Val
ENST00000376583.7:c.1915C>G	ENSP00000365767.3:p.Leu639Val
ENST00000376585.5:c.1915C>G	ENSP00000365770.1:p.Leu639Val
ENST00000376590.7:c.1792C>G	ENSP00000365775.3:p.Leu598Val
ENST00000376592.5:c.1792C>G	ENSP00000365777.1:p.Leu598Val
NM_005957.4:c.1792C>G , LRG_726t1:c.1792C>G	NP_005948.3:p.Leu598Val
XM_005263458.2:c.1915C>G	XP_005263515.1:p.Leu639Val
XM_005263460.3:c.1792C>G	XP_005263517.1:p.Leu598Val
XM_005263461.3:c.1792C>G	XP_005263518.1:p.Leu598Val
XM_005263462.3:c.1792C>G	XP_005263519.1:p.Leu598Val
XM_005263463.2:c.1546C>G	XP_005263520.1:p.Leu516Val
XM_011541495.1:c.1912C>G	XP_011539797.1:p.Leu638Val
XM_011541496.1:c.1876-143C>G	XP_011539798.1:n.1876-143C>G
NM_001330358.1:c.1915C>G	NP_001317287.1:p.Leu639Val
XM_005263460.5:c.1792C>G	XP_005263517.1:p.Leu598Val
XM_005263462.4:c.1792C>G	XP_005263519.1:p.Leu598Val
XM_005263463.4:c.1546C>G	XP_005263520.1:p.Leu516Val
XM_011541495.3:c.1912C>G	XP_011539797.1:p.Leu638Val
XM_011541496.3:c.1876-143C>G	XP_011539798.1:n.1876-143C>G
XM_017001328.2:c.1876-111C>G	XP_016856817.1:n.1876-111C>G
XM_024447198.1:c.1546C>G	XP_024302966.1:p.Leu516Val
XR_002956640.1:n.2854-143C>G
NM_005957.5:c.1792C>G MANE Select	NP_005948.3:p.Leu598Val
NM_001330358.2:c.1915C>G	NP_001317287.1:p.Leu639Val