Canonical Allele Identifier: CA338421931

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2290646
• ClinVar RCV Id: RCV002859261
• MyVariant Identifiers: chr1:g.11860289T>C (hg19) ; chr1:g.11800232T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800232T>C , CM000663.2:g.11800232T>C	GRCh38
NC_000001.10:g.11860289T>C , CM000663.1:g.11860289T>C	GRCh37
NC_000001.9:g.11782876T>C	NCBI36
NG_013351.1:g.10872A>G , LRG_726:g.10872A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.566A>G	ENSP00000365669.3:p.Tyr189Cys
ENST00000376585.6:c.689A>G	ENSP00000365770.1:p.Tyr230Cys
ENST00000376590.9:c.566A>G MANE Select	ENSP00000365775.3:p.Tyr189Cys
ENST00000376592.6:c.566A>G	ENSP00000365777.1:p.Tyr189Cys
ENST00000423400.7:c.686A>G	ENSP00000398908.3:p.Tyr229Cys
ENST00000641407.1:c.566A>G	ENSP00000493098.1:p.Tyr189Cys
ENST00000641437.1:n.1536A>G
ENST00000641446.1:c.566A>G	ENSP00000493262.1:p.Tyr189Cys
ENST00000641721.1:n.623A>G
ENST00000641747.1:c.*78A>G	ENSP00000493116.1:n.*78A>G
ENST00000641759.1:n.701A>G
ENST00000641805.1:n.849A>G
ENST00000641909.1:n.1814A>G
ENST00000376583.7:c.689A>G	ENSP00000365767.3:p.Tyr230Cys
ENST00000376585.5:c.689A>G	ENSP00000365770.1:p.Tyr230Cys
ENST00000376590.7:c.566A>G	ENSP00000365775.3:p.Tyr189Cys
ENST00000376592.5:c.566A>G	ENSP00000365777.1:p.Tyr189Cys
NM_005957.4:c.566A>G , LRG_726t1:c.566A>G	NP_005948.3:p.Tyr189Cys
XM_005263458.2:c.689A>G	XP_005263515.1:p.Tyr230Cys
XM_005263460.3:c.566A>G	XP_005263517.1:p.Tyr189Cys
XM_005263461.3:c.566A>G	XP_005263518.1:p.Tyr189Cys
XM_005263462.3:c.566A>G	XP_005263519.1:p.Tyr189Cys
XM_005263463.2:c.320A>G	XP_005263520.1:p.Tyr107Cys
XM_011541495.1:c.686A>G	XP_011539797.1:p.Tyr229Cys
XM_011541496.1:c.689A>G	XP_011539798.1:p.Tyr230Cys
NM_001330358.1:c.689A>G	NP_001317287.1:p.Tyr230Cys
XM_005263460.5:c.566A>G	XP_005263517.1:p.Tyr189Cys
XM_005263462.4:c.566A>G	XP_005263519.1:p.Tyr189Cys
XM_005263463.4:c.320A>G	XP_005263520.1:p.Tyr107Cys
XM_011541495.3:c.686A>G	XP_011539797.1:p.Tyr229Cys
XM_011541496.3:c.689A>G	XP_011539798.1:p.Tyr230Cys
XM_017001328.2:c.689A>G	XP_016856817.1:p.Tyr230Cys
XM_024447198.1:c.320A>G	XP_024302966.1:p.Tyr107Cys
XR_002956640.1:n.1433A>G
NM_005957.5:c.566A>G MANE Select	NP_005948.3:p.Tyr189Cys
NM_001330358.2:c.689A>G	NP_001317287.1:p.Tyr230Cys