Canonical Allele Identifier: CA338422341

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11801229-T-A
• MyVariant Identifiers: chr1:g.11861286T>A (hg19) ; chr1:g.11801229T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801229T>A , CM000663.2:g.11801229T>A	GRCh38
NC_000001.10:g.11861286T>A , CM000663.1:g.11861286T>A	GRCh37
NC_000001.9:g.11783873T>A	NCBI36
NG_008766.1:g.80T>A
NG_013351.1:g.9875A>T , LRG_726:g.9875A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.407A>T	ENSP00000365669.3:p.Glu136Val
ENST00000376585.6:c.530A>T	ENSP00000365770.1:p.Glu177Val
ENST00000376590.9:c.407A>T MANE Select	ENSP00000365775.3:p.Glu136Val
ENST00000376592.6:c.407A>T	ENSP00000365777.1:p.Glu136Val
ENST00000423400.7:c.527A>T	ENSP00000398908.3:p.Glu176Val
ENST00000641407.1:c.407A>T	ENSP00000493098.1:p.Glu136Val
ENST00000641437.1:n.539A>T
ENST00000641446.1:c.407A>T	ENSP00000493262.1:p.Glu136Val
ENST00000641721.1:n.464A>T
ENST00000641747.1:c.237-907A>T	ENSP00000493116.1:n.237-907A>T
ENST00000641759.1:n.542A>T
ENST00000641805.1:n.690A>T
ENST00000641909.1:n.817A>T
ENST00000376583.7:c.530A>T	ENSP00000365767.3:p.Glu177Val
ENST00000376585.5:c.530A>T	ENSP00000365770.1:p.Glu177Val
ENST00000376590.7:c.407A>T	ENSP00000365775.3:p.Glu136Val
ENST00000376592.5:c.407A>T	ENSP00000365777.1:p.Glu136Val
ENST00000418034.1:c.407A>T	ENSP00000405082.1:p.Glu136Val
NM_005957.4:c.407A>T , LRG_726t1:c.407A>T	NP_005948.3:p.Glu136Val
XM_005263458.2:c.530A>T	XP_005263515.1:p.Glu177Val
XM_005263460.3:c.407A>T	XP_005263517.1:p.Glu136Val
XM_005263461.3:c.407A>T	XP_005263518.1:p.Glu136Val
XM_005263462.3:c.407A>T	XP_005263519.1:p.Glu136Val
XM_005263463.2:c.161A>T	XP_005263520.1:p.Glu54Val
XM_011541495.1:c.527A>T	XP_011539797.1:p.Glu176Val
XM_011541496.1:c.530A>T	XP_011539798.1:p.Glu177Val
NM_001330358.1:c.530A>T	NP_001317287.1:p.Glu177Val
XM_005263460.5:c.407A>T	XP_005263517.1:p.Glu136Val
XM_005263462.4:c.407A>T	XP_005263519.1:p.Glu136Val
XM_005263463.4:c.161A>T	XP_005263520.1:p.Glu54Val
XM_011541495.3:c.527A>T	XP_011539797.1:p.Glu176Val
XM_011541496.3:c.530A>T	XP_011539798.1:p.Glu177Val
XM_017001328.2:c.530A>T	XP_016856817.1:p.Glu177Val
XM_024447198.1:c.161A>T	XP_024302966.1:p.Glu54Val
XR_002956640.1:n.1274A>T
NM_005957.5:c.407A>T MANE Select	NP_005948.3:p.Glu136Val
NM_001330358.2:c.530A>T	NP_001317287.1:p.Glu177Val