Canonical Allele Identifier: CA2573130496

Gene: MTHFR

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794440_11794463dup , CM000663.2:g.11794440_11794463dup	GRCh38
NC_000001.10:g.11854497_11854520dup , CM000663.1:g.11854497_11854520dup	GRCh37
NC_000001.9:g.11777084_11777107dup	NCBI36
NG_013351.1:g.16651_16674dup , LRG_726:g.16651_16674dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1375_1398dup	ENSP00000365770.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
ENST00000376590.9:c.1252_1275dup MANE Select	ENSP00000365775.3:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
ENST00000376592.6:c.1252_1275dup	ENSP00000365777.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
ENST00000423400.7:c.1372_1395dup	ENSP00000398908.3:p.Leu465_Thr466insLeuLysMetTrpGlyGluGluLeu
ENST00000641407.1:c.1252_1275dup	ENSP00000493098.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
ENST00000641446.1:c.1252_1275dup	ENSP00000493262.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
ENST00000641747.1:c.*764_*787dup	ENSP00000493116.1:n.*764_*787dup
ENST00000641759.1:n.1621_1644dup
ENST00000641805.1:n.1769_1792dup
ENST00000641820.1:c.517_540dup	ENSP00000492937.1:p.Leu180_Thr181insLeuLysMetTrpGlyGluGluLeu
ENST00000376583.7:c.1375_1398dup	ENSP00000365767.3:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
ENST00000376585.5:c.1375_1398dup	ENSP00000365770.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
ENST00000376590.7:c.1252_1275dup	ENSP00000365775.3:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
ENST00000376592.5:c.1252_1275dup	ENSP00000365777.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
NM_005957.4:c.1252_1275dup , LRG_726t1:c.1252_1275dup	NP_005948.3:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
XM_005263458.2:c.1375_1398dup	XP_005263515.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
XM_005263460.3:c.1252_1275dup	XP_005263517.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
XM_005263461.3:c.1252_1275dup	XP_005263518.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
XM_005263462.3:c.1252_1275dup	XP_005263519.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
XM_005263463.2:c.1006_1029dup	XP_005263520.1:p.Leu343_Thr344insLeuLysMetTrpGlyGluGluLeu
XM_011541495.1:c.1372_1395dup	XP_011539797.1:p.Leu465_Thr466insLeuLysMetTrpGlyGluGluLeu
XM_011541496.1:c.1375_1398dup	XP_011539798.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
NM_001330358.1:c.1375_1398dup	NP_001317287.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
XM_005263460.5:c.1252_1275dup	XP_005263517.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
XM_005263462.4:c.1252_1275dup	XP_005263519.1:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
XM_005263463.4:c.1006_1029dup	XP_005263520.1:p.Leu343_Thr344insLeuLysMetTrpGlyGluGluLeu
XM_011541495.3:c.1372_1395dup	XP_011539797.1:p.Leu465_Thr466insLeuLysMetTrpGlyGluGluLeu
XM_011541496.3:c.1375_1398dup	XP_011539798.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
XM_017001328.2:c.1375_1398dup	XP_016856817.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu
XM_024447198.1:c.1006_1029dup	XP_024302966.1:p.Leu343_Thr344insLeuLysMetTrpGlyGluGluLeu
XR_002956640.1:n.2353_2376dup
NM_005957.5:c.1252_1275dup MANE Select	NP_005948.3:p.Leu425_Thr426insLeuLysMetTrpGlyGluGluLeu
NM_001330358.2:c.1375_1398dup	NP_001317287.1:p.Leu466_Thr467insLeuLysMetTrpGlyGluGluLeu