Canonical Allele Identifier: CA338480601

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11856295A>T (hg19) ; chr1:g.11796238A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796238A>T , CM000663.2:g.11796238A>T	GRCh38
NC_000001.10:g.11856295A>T , CM000663.1:g.11856295A>T	GRCh37
NC_000001.9:g.11778882A>T	NCBI36
NG_013351.1:g.14866T>A , LRG_726:g.14866T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.871T>A	ENSP00000365770.1:p.Cys291Ser
ENST00000376590.9:c.748T>A MANE Select	ENSP00000365775.3:p.Cys250Ser
ENST00000376592.6:c.748T>A	ENSP00000365777.1:p.Cys250Ser
ENST00000423400.7:c.868T>A	ENSP00000398908.3:p.Cys290Ser
ENST00000641407.1:c.748T>A	ENSP00000493098.1:p.Cys250Ser
ENST00000641446.1:c.748T>A	ENSP00000493262.1:p.Cys250Ser
ENST00000641721.1:n.644-890T>A
ENST00000641747.1:c.*260T>A	ENSP00000493116.1:n.*260T>A
ENST00000641759.1:n.883T>A
ENST00000641805.1:n.1031T>A
ENST00000641820.1:c.13T>A	ENSP00000492937.1:p.Cys5Ser
ENST00000376583.7:c.871T>A	ENSP00000365767.3:p.Cys291Ser
ENST00000376585.5:c.871T>A	ENSP00000365770.1:p.Cys291Ser
ENST00000376590.7:c.748T>A	ENSP00000365775.3:p.Cys250Ser
ENST00000376592.5:c.748T>A	ENSP00000365777.1:p.Cys250Ser
NM_005957.4:c.748T>A , LRG_726t1:c.748T>A	NP_005948.3:p.Cys250Ser
XM_005263458.2:c.871T>A	XP_005263515.1:p.Cys291Ser
XM_005263460.3:c.748T>A	XP_005263517.1:p.Cys250Ser
XM_005263461.3:c.748T>A	XP_005263518.1:p.Cys250Ser
XM_005263462.3:c.748T>A	XP_005263519.1:p.Cys250Ser
XM_005263463.2:c.502T>A	XP_005263520.1:p.Cys168Ser
XM_011541495.1:c.868T>A	XP_011539797.1:p.Cys290Ser
XM_011541496.1:c.871T>A	XP_011539798.1:p.Cys291Ser
NM_001330358.1:c.871T>A	NP_001317287.1:p.Cys291Ser
XM_005263460.5:c.748T>A	XP_005263517.1:p.Cys250Ser
XM_005263462.4:c.748T>A	XP_005263519.1:p.Cys250Ser
XM_005263463.4:c.502T>A	XP_005263520.1:p.Cys168Ser
XM_011541495.3:c.868T>A	XP_011539797.1:p.Cys290Ser
XM_011541496.3:c.871T>A	XP_011539798.1:p.Cys291Ser
XM_017001328.2:c.871T>A	XP_016856817.1:p.Cys291Ser
XM_024447198.1:c.502T>A	XP_024302966.1:p.Cys168Ser
XR_002956640.1:n.1615T>A
NM_005957.5:c.748T>A MANE Select	NP_005948.3:p.Cys250Ser
NM_001330358.2:c.871T>A	NP_001317287.1:p.Cys291Ser