Canonical Allele Identifier: CA338423014

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802941C>T , CM000663.2:g.11802941C>T	GRCh38
NC_000001.10:g.11862998C>T , CM000663.1:g.11862998C>T	GRCh37
NC_000001.9:g.11785585C>T	NCBI36
NG_008766.1:g.1792C>T
NG_013351.1:g.8163G>A , LRG_726:g.8163G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005957.5:c.176G>A MANE Select	NP_005948.3:p.Trp59Ter
ENST00000376590.9:c.176G>A MANE Select	ENSP00000365775.3:p.Trp59Ter
NM_001330358.1:c.299G>A	NP_001317287.1:p.Trp100Ter
NM_001330358.2:c.299G>A	NP_001317287.1:p.Trp100Ter
NM_005957.4:c.176G>A , LRG_726t1:c.176G>A	NP_005948.3:p.Trp59Ter
ENST00000376486.3:c.176G>A	ENSP00000365669.3:p.Trp59Ter
ENST00000376583.7:c.299G>A	ENSP00000365767.3:p.Trp100Ter
ENST00000376585.5:c.299G>A	ENSP00000365770.1:p.Trp100Ter
ENST00000376585.6:c.299G>A	ENSP00000365770.1:p.Trp100Ter
ENST00000376590.7:c.176G>A	ENSP00000365775.3:p.Trp59Ter
ENST00000376592.5:c.176G>A	ENSP00000365777.1:p.Trp59Ter
ENST00000376592.6:c.176G>A	ENSP00000365777.1:p.Trp59Ter
ENST00000418034.1:c.176G>A	ENSP00000405082.1:p.Trp59Ter
ENST00000423400.7:c.296G>A	ENSP00000398908.3:p.Trp99Ter
ENST00000431243.6:n.957G>A
ENST00000641407.1:c.176G>A	ENSP00000493098.1:p.Trp59Ter
ENST00000641437.1:n.308G>A
ENST00000641446.1:c.176G>A	ENSP00000493262.1:p.Trp59Ter
ENST00000641721.1:n.233G>A
ENST00000641747.1:c.176G>A	ENSP00000493116.1:p.Trp59Ter
ENST00000641759.1:n.311G>A
ENST00000641805.1:n.459G>A
ENST00000641909.1:n.586G>A
ENST00000642002.1:n.405G>A
XM_005263458.2:c.299G>A	XP_005263515.1:p.Trp100Ter
XM_005263460.3:c.176G>A	XP_005263517.1:p.Trp59Ter
XM_005263460.5:c.176G>A	XP_005263517.1:p.Trp59Ter
XM_005263461.3:c.176G>A	XP_005263518.1:p.Trp59Ter
XM_005263462.3:c.176G>A	XP_005263519.1:p.Trp59Ter
XM_005263462.4:c.176G>A	XP_005263519.1:p.Trp59Ter
XM_005263463.2:c.-88G>A	XP_005263520.1:n.-88G>A
XM_005263463.4:c.-88G>A	XP_005263520.1:n.-88G>A
XM_011541495.1:c.296G>A	XP_011539797.1:p.Trp99Ter
XM_011541495.3:c.296G>A	XP_011539797.1:p.Trp99Ter
XM_011541496.1:c.299G>A	XP_011539798.1:p.Trp100Ter
XM_011541496.3:c.299G>A	XP_011539798.1:p.Trp100Ter
XM_017001328.2:c.299G>A	XP_016856817.1:p.Trp100Ter
XM_024447198.1:c.-88G>A	XP_024302966.1:n.-88G>A
XR_002956640.1:n.1043G>A