Canonical Allele Identifier: CA338473435

Gene: MTHFR

Linked Data

• dbSNP Id: rs786204037
• gnomAD v4: 1-11790768-A-T
• MyVariant Identifiers: chr1:g.11850825A>T (hg19) ; chr1:g.11790768A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790768A>T , CM000663.2:g.11790768A>T	GRCh38
NC_000001.10:g.11850825A>T , CM000663.1:g.11850825A>T	GRCh37
NC_000001.9:g.11773412A>T	NCBI36
NG_013351.1:g.20336T>A , LRG_726:g.20336T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.2006T>A	ENSP00000365770.1:p.Leu669Gln
ENST00000376590.9:c.1883T>A MANE Select	ENSP00000365775.3:p.Leu628Gln
ENST00000376592.6:c.1883T>A	ENSP00000365777.1:p.Leu628Gln
ENST00000423400.7:c.2003T>A	ENSP00000398908.3:p.Leu668Gln
ENST00000641407.1:c.1753-52T>A	ENSP00000493098.1:n.1753-52T>A
ENST00000641446.1:c.*342T>A	ENSP00000493262.1:n.*342T>A
ENST00000641747.1:c.*1395T>A	ENSP00000493116.1:n.*1395T>A
ENST00000641759.1:n.2252T>A
ENST00000641805.1:n.2270-52T>A
ENST00000641820.1:c.1148T>A	ENSP00000492937.1:p.Leu383Gln
ENST00000376583.7:c.2006T>A	ENSP00000365767.3:p.Leu669Gln
ENST00000376585.5:c.2006T>A	ENSP00000365770.1:p.Leu669Gln
ENST00000376590.7:c.1883T>A	ENSP00000365775.3:p.Leu628Gln
ENST00000376592.5:c.1883T>A	ENSP00000365777.1:p.Leu628Gln
NM_005957.4:c.1883T>A , LRG_726t1:c.1883T>A	NP_005948.3:p.Leu628Gln
XM_005263458.2:c.2006T>A	XP_005263515.1:p.Leu669Gln
XM_005263460.3:c.1883T>A	XP_005263517.1:p.Leu628Gln
XM_005263461.3:c.1883T>A	XP_005263518.1:p.Leu628Gln
XM_005263462.3:c.1883T>A	XP_005263519.1:p.Leu628Gln
XM_005263463.2:c.1637T>A	XP_005263520.1:p.Leu546Gln
XM_011541495.1:c.2003T>A	XP_011539797.1:p.Leu668Gln
XM_011541496.1:c.1876-52T>A	XP_011539798.1:n.1876-52T>A
NM_001330358.1:c.2006T>A	NP_001317287.1:p.Leu669Gln
XM_005263460.5:c.1883T>A	XP_005263517.1:p.Leu628Gln
XM_005263462.4:c.1883T>A	XP_005263519.1:p.Leu628Gln
XM_005263463.4:c.1637T>A	XP_005263520.1:p.Leu546Gln
XM_011541495.3:c.2003T>A	XP_011539797.1:p.Leu668Gln
XM_011541496.3:c.1876-52T>A	XP_011539798.1:n.1876-52T>A
XM_017001328.2:c.1876-20T>A	XP_016856817.1:n.1876-20T>A
XM_024447198.1:c.1637T>A	XP_024302966.1:p.Leu546Gln
XR_002956640.1:n.2854-52T>A
NM_005957.5:c.1883T>A MANE Select	NP_005948.3:p.Leu628Gln
NM_001330358.2:c.2006T>A	NP_001317287.1:p.Leu669Gln