Canonical Allele Identifier: CA338480298

Gene: MTHFR

Linked Data

• COSMIC: COSM462719 ; COSM4858313
• MyVariant Identifiers: chr1:g.11855302C>A (hg19) ; chr1:g.11795245C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795245C>A , CM000663.2:g.11795245C>A	GRCh38
NC_000001.10:g.11855302C>A , CM000663.1:g.11855302C>A	GRCh37
NC_000001.9:g.11777889C>A	NCBI36
NG_013351.1:g.15859G>T , LRG_726:g.15859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1007G>T	ENSP00000365770.1:p.Arg336Leu
ENST00000376590.9:c.884G>T MANE Select	ENSP00000365775.3:p.Arg295Leu
ENST00000376592.6:c.884G>T	ENSP00000365777.1:p.Arg295Leu
ENST00000423400.7:c.1004G>T	ENSP00000398908.3:p.Arg335Leu
ENST00000641407.1:c.884G>T	ENSP00000493098.1:p.Arg295Leu
ENST00000641446.1:c.884G>T	ENSP00000493262.1:p.Arg295Leu
ENST00000641721.1:n.747G>T
ENST00000641747.1:c.*396G>T	ENSP00000493116.1:n.*396G>T
ENST00000641759.1:n.1019G>T
ENST00000641805.1:n.1167G>T
ENST00000641820.1:c.149G>T	ENSP00000492937.1:p.Arg50Leu
ENST00000376583.7:c.1007G>T	ENSP00000365767.3:p.Arg336Leu
ENST00000376585.5:c.1007G>T	ENSP00000365770.1:p.Arg336Leu
ENST00000376590.7:c.884G>T	ENSP00000365775.3:p.Arg295Leu
ENST00000376592.5:c.884G>T	ENSP00000365777.1:p.Arg295Leu
NM_005957.4:c.884G>T , LRG_726t1:c.884G>T	NP_005948.3:p.Arg295Leu
XM_005263458.2:c.1007G>T	XP_005263515.1:p.Arg336Leu
XM_005263460.3:c.884G>T	XP_005263517.1:p.Arg295Leu
XM_005263461.3:c.884G>T	XP_005263518.1:p.Arg295Leu
XM_005263462.3:c.884G>T	XP_005263519.1:p.Arg295Leu
XM_005263463.2:c.638G>T	XP_005263520.1:p.Arg213Leu
XM_011541495.1:c.1004G>T	XP_011539797.1:p.Arg335Leu
XM_011541496.1:c.1007G>T	XP_011539798.1:p.Arg336Leu
NM_001330358.1:c.1007G>T	NP_001317287.1:p.Arg336Leu
XM_005263460.5:c.884G>T	XP_005263517.1:p.Arg295Leu
XM_005263462.4:c.884G>T	XP_005263519.1:p.Arg295Leu
XM_005263463.4:c.638G>T	XP_005263520.1:p.Arg213Leu
XM_011541495.3:c.1004G>T	XP_011539797.1:p.Arg335Leu
XM_011541496.3:c.1007G>T	XP_011539798.1:p.Arg336Leu
XM_017001328.2:c.1007G>T	XP_016856817.1:p.Arg336Leu
XM_024447198.1:c.638G>T	XP_024302966.1:p.Arg213Leu
XR_002956640.1:n.1751G>T
NM_005957.5:c.884G>T MANE Select	NP_005948.3:p.Arg295Leu
NM_001330358.2:c.1007G>T	NP_001317287.1:p.Arg336Leu