Canonical Allele Identifier: CA338473309

Gene: MTHFR

Linked Data

• dbSNP Id: rs1570462039
• MyVariant Identifiers: chr1:g.11850801A>C (hg19) ; chr1:g.11790744A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790744A>C , CM000663.2:g.11790744A>C	GRCh38
NC_000001.10:g.11850801A>C , CM000663.1:g.11850801A>C	GRCh37
NC_000001.9:g.11773388A>C	NCBI36
NG_013351.1:g.20360T>G , LRG_726:g.20360T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.2030T>G	ENSP00000365770.1:p.Val677Gly
ENST00000376590.9:c.1907T>G MANE Select	ENSP00000365775.3:p.Val636Gly
ENST00000376592.6:c.1907T>G	ENSP00000365777.1:p.Val636Gly
ENST00000423400.7:c.2027T>G	ENSP00000398908.3:p.Val676Gly
ENST00000641407.1:c.1753-28T>G	ENSP00000493098.1:n.1753-28T>G
ENST00000641446.1:c.*366T>G	ENSP00000493262.1:n.*366T>G
ENST00000641747.1:c.*1419T>G	ENSP00000493116.1:n.*1419T>G
ENST00000641759.1:n.2276T>G
ENST00000641805.1:n.2270-28T>G
ENST00000641820.1:c.1172T>G	ENSP00000492937.1:p.Val391Gly
ENST00000376583.7:c.2030T>G	ENSP00000365767.3:p.Val677Gly
ENST00000376585.5:c.2030T>G	ENSP00000365770.1:p.Val677Gly
ENST00000376590.7:c.1907T>G	ENSP00000365775.3:p.Val636Gly
ENST00000376592.5:c.1907T>G	ENSP00000365777.1:p.Val636Gly
NM_005957.4:c.1907T>G , LRG_726t1:c.1907T>G	NP_005948.3:p.Val636Gly
XM_005263458.2:c.2030T>G	XP_005263515.1:p.Val677Gly
XM_005263460.3:c.1907T>G	XP_005263517.1:p.Val636Gly
XM_005263461.3:c.1907T>G	XP_005263518.1:p.Val636Gly
XM_005263462.3:c.1907T>G	XP_005263519.1:p.Val636Gly
XM_005263463.2:c.1661T>G	XP_005263520.1:p.Val554Gly
XM_011541495.1:c.2027T>G	XP_011539797.1:p.Val676Gly
XM_011541496.1:c.1876-28T>G	XP_011539798.1:n.1876-28T>G
NM_001330358.1:c.2030T>G	NP_001317287.1:p.Val677Gly
XM_005263460.5:c.1907T>G	XP_005263517.1:p.Val636Gly
XM_005263462.4:c.1907T>G	XP_005263519.1:p.Val636Gly
XM_005263463.4:c.1661T>G	XP_005263520.1:p.Val554Gly
XM_011541495.3:c.2027T>G	XP_011539797.1:p.Val676Gly
XM_011541496.3:c.1876-28T>G	XP_011539798.1:n.1876-28T>G
XM_017001328.2:c.1880T>G	XP_016856817.1:p.Val627Gly
XM_024447198.1:c.1661T>G	XP_024302966.1:p.Val554Gly
XR_002956640.1:n.2854-28T>G
NM_005957.5:c.1907T>G MANE Select	NP_005948.3:p.Val636Gly
NM_001330358.2:c.2030T>G	NP_001317287.1:p.Val677Gly