Canonical Allele Identifier: CA338423134

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11802999-C-T
• MyVariant Identifiers: chr1:g.11863056C>T (hg19) ; chr1:g.11802999C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802999C>T , CM000663.2:g.11802999C>T	GRCh38
NC_000001.10:g.11863056C>T , CM000663.1:g.11863056C>T	GRCh37
NC_000001.9:g.11785643C>T	NCBI36
NG_008766.1:g.1850C>T
NG_013351.1:g.8105G>A , LRG_726:g.8105G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.118G>A	ENSP00000365669.3:p.Glu40Lys
ENST00000376585.6:c.241G>A	ENSP00000365770.1:p.Glu81Lys
ENST00000376590.9:c.118G>A MANE Select	ENSP00000365775.3:p.Glu40Lys
ENST00000376592.6:c.118G>A	ENSP00000365777.1:p.Glu40Lys
ENST00000423400.7:c.238G>A	ENSP00000398908.3:p.Glu80Lys
ENST00000431243.6:n.899G>A
ENST00000641407.1:c.118G>A	ENSP00000493098.1:p.Glu40Lys
ENST00000641437.1:n.250G>A
ENST00000641446.1:c.118G>A	ENSP00000493262.1:p.Glu40Lys
ENST00000641721.1:n.175G>A
ENST00000641747.1:c.118G>A	ENSP00000493116.1:p.Glu40Lys
ENST00000641759.1:n.253G>A
ENST00000641805.1:n.401G>A
ENST00000641909.1:n.528G>A
ENST00000642002.1:n.347G>A
ENST00000376583.7:c.241G>A	ENSP00000365767.3:p.Glu81Lys
ENST00000376585.5:c.241G>A	ENSP00000365770.1:p.Glu81Lys
ENST00000376590.7:c.118G>A	ENSP00000365775.3:p.Glu40Lys
ENST00000376592.5:c.118G>A	ENSP00000365777.1:p.Glu40Lys
ENST00000418034.1:c.118G>A	ENSP00000405082.1:p.Glu40Lys
NM_005957.4:c.118G>A , LRG_726t1:c.118G>A	NP_005948.3:p.Glu40Lys
XM_005263458.2:c.241G>A	XP_005263515.1:p.Glu81Lys
XM_005263460.3:c.118G>A	XP_005263517.1:p.Glu40Lys
XM_005263461.3:c.118G>A	XP_005263518.1:p.Glu40Lys
XM_005263462.3:c.118G>A	XP_005263519.1:p.Glu40Lys
XM_005263463.2:c.-146G>A	XP_005263520.1:n.-146G>A
XM_011541495.1:c.238G>A	XP_011539797.1:p.Glu80Lys
XM_011541496.1:c.241G>A	XP_011539798.1:p.Glu81Lys
NM_001330358.1:c.241G>A	NP_001317287.1:p.Glu81Lys
XM_005263460.5:c.118G>A	XP_005263517.1:p.Glu40Lys
XM_005263462.4:c.118G>A	XP_005263519.1:p.Glu40Lys
XM_005263463.4:c.-146G>A	XP_005263520.1:n.-146G>A
XM_011541495.3:c.238G>A	XP_011539797.1:p.Glu80Lys
XM_011541496.3:c.241G>A	XP_011539798.1:p.Glu81Lys
XM_017001328.2:c.241G>A	XP_016856817.1:p.Glu81Lys
XM_024447198.1:c.-146G>A	XP_024302966.1:n.-146G>A
XR_002956640.1:n.985G>A
NM_005957.5:c.118G>A MANE Select	NP_005948.3:p.Glu40Lys
NM_001330358.2:c.241G>A	NP_001317287.1:p.Glu81Lys