Canonical Allele Identifier: CA17974700

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801290C>T , CM000663.2:g.11801290C>T	GRCh38
NC_000001.10:g.11861347C>T , CM000663.1:g.11861347C>T	GRCh37
NC_000001.9:g.11783934C>T	NCBI36
NG_008766.1:g.141C>T
NG_013351.1:g.9814G>A , LRG_726:g.9814G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005957.5:c.346G>A MANE Select	NP_005948.3:p.Ala116Thr
ENST00000376590.9:c.346G>A MANE Select	ENSP00000365775.3:p.Ala116Thr
NM_001330358.1:c.469G>A	NP_001317287.1:p.Ala157Thr
NM_001330358.2:c.469G>A	NP_001317287.1:p.Ala157Thr
NM_005957.4:c.346G>A , LRG_726t1:c.346G>A	NP_005948.3:p.Ala116Thr
ENST00000376486.3:c.346G>A	ENSP00000365669.3:p.Ala116Thr
ENST00000376583.7:c.469G>A	ENSP00000365767.3:p.Ala157Thr
ENST00000376585.5:c.469G>A	ENSP00000365770.1:p.Ala157Thr
ENST00000376585.6:c.469G>A	ENSP00000365770.1:p.Ala157Thr
ENST00000376590.7:c.346G>A	ENSP00000365775.3:p.Ala116Thr
ENST00000376592.5:c.346G>A	ENSP00000365777.1:p.Ala116Thr
ENST00000376592.6:c.346G>A	ENSP00000365777.1:p.Ala116Thr
ENST00000418034.1:c.346G>A	ENSP00000405082.1:p.Ala116Thr
ENST00000423400.7:c.466G>A	ENSP00000398908.3:p.Ala156Thr
ENST00000641407.1:c.346G>A	ENSP00000493098.1:p.Ala116Thr
ENST00000641437.1:n.478G>A
ENST00000641446.1:c.346G>A	ENSP00000493262.1:p.Ala116Thr
ENST00000641721.1:n.403G>A
ENST00000641747.1:c.237-968G>A	ENSP00000493116.1:n.237-968G>A
ENST00000641759.1:n.481G>A
ENST00000641805.1:n.629G>A
ENST00000641909.1:n.756G>A
XM_005263458.2:c.469G>A	XP_005263515.1:p.Ala157Thr
XM_005263460.3:c.346G>A	XP_005263517.1:p.Ala116Thr
XM_005263460.5:c.346G>A	XP_005263517.1:p.Ala116Thr
XM_005263461.3:c.346G>A	XP_005263518.1:p.Ala116Thr
XM_005263462.3:c.346G>A	XP_005263519.1:p.Ala116Thr
XM_005263462.4:c.346G>A	XP_005263519.1:p.Ala116Thr
XM_005263463.2:c.100G>A	XP_005263520.1:p.Ala34Thr
XM_005263463.4:c.100G>A	XP_005263520.1:p.Ala34Thr
XM_011541495.1:c.466G>A	XP_011539797.1:p.Ala156Thr
XM_011541495.3:c.466G>A	XP_011539797.1:p.Ala156Thr
XM_011541496.1:c.469G>A	XP_011539798.1:p.Ala157Thr
XM_011541496.3:c.469G>A	XP_011539798.1:p.Ala157Thr
XM_017001328.2:c.469G>A	XP_016856817.1:p.Ala157Thr
XM_024447198.1:c.100G>A	XP_024302966.1:p.Ala34Thr
XR_002956640.1:n.1213G>A