Canonical Allele Identifier: CA338422168

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11801172-G-T
• COSMIC: COSM6340986 ; COSM6340987
• MyVariant Identifiers: chr1:g.11861229G>T (hg19) ; chr1:g.11801172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801172G>T , CM000663.2:g.11801172G>T	GRCh38
NC_000001.10:g.11861229G>T , CM000663.1:g.11861229G>T	GRCh37
NC_000001.9:g.11783816G>T	NCBI36
NG_008766.1:g.23G>T
NG_013351.1:g.9932C>A , LRG_726:g.9932C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.464C>A	ENSP00000365669.3:p.Ala155Glu
ENST00000376585.6:c.587C>A	ENSP00000365770.1:p.Ala196Glu
ENST00000376590.9:c.464C>A MANE Select	ENSP00000365775.3:p.Ala155Glu
ENST00000376592.6:c.464C>A	ENSP00000365777.1:p.Ala155Glu
ENST00000423400.7:c.584C>A	ENSP00000398908.3:p.Ala195Glu
ENST00000641407.1:c.464C>A	ENSP00000493098.1:p.Ala155Glu
ENST00000641437.1:n.596C>A
ENST00000641446.1:c.464C>A	ENSP00000493262.1:p.Ala155Glu
ENST00000641721.1:n.521C>A
ENST00000641747.1:c.237-850C>A	ENSP00000493116.1:n.237-850C>A
ENST00000641759.1:n.599C>A
ENST00000641805.1:n.747C>A
ENST00000641909.1:n.874C>A
ENST00000376583.7:c.587C>A	ENSP00000365767.3:p.Ala196Glu
ENST00000376585.5:c.587C>A	ENSP00000365770.1:p.Ala196Glu
ENST00000376590.7:c.464C>A	ENSP00000365775.3:p.Ala155Glu
ENST00000376592.5:c.464C>A	ENSP00000365777.1:p.Ala155Glu
NM_005957.4:c.464C>A , LRG_726t1:c.464C>A	NP_005948.3:p.Ala155Glu
XM_005263458.2:c.587C>A	XP_005263515.1:p.Ala196Glu
XM_005263460.3:c.464C>A	XP_005263517.1:p.Ala155Glu
XM_005263461.3:c.464C>A	XP_005263518.1:p.Ala155Glu
XM_005263462.3:c.464C>A	XP_005263519.1:p.Ala155Glu
XM_005263463.2:c.218C>A	XP_005263520.1:p.Ala73Glu
XM_011541495.1:c.584C>A	XP_011539797.1:p.Ala195Glu
XM_011541496.1:c.587C>A	XP_011539798.1:p.Ala196Glu
NM_001330358.1:c.587C>A	NP_001317287.1:p.Ala196Glu
XM_005263460.5:c.464C>A	XP_005263517.1:p.Ala155Glu
XM_005263462.4:c.464C>A	XP_005263519.1:p.Ala155Glu
XM_005263463.4:c.218C>A	XP_005263520.1:p.Ala73Glu
XM_011541495.3:c.584C>A	XP_011539797.1:p.Ala195Glu
XM_011541496.3:c.587C>A	XP_011539798.1:p.Ala196Glu
XM_017001328.2:c.587C>A	XP_016856817.1:p.Ala196Glu
XM_024447198.1:c.218C>A	XP_024302966.1:p.Ala73Glu
XR_002956640.1:n.1331C>A
NM_005957.5:c.464C>A MANE Select	NP_005948.3:p.Ala155Glu
NM_001330358.2:c.587C>A	NP_001317287.1:p.Ala196Glu