Canonical Allele Identifier: CA2695197965

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2676837
• ClinVar RCV Id: RCV003461963

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794743_11794744delinsC , CM000663.2:g.11794743_11794744delinsC	GRCh38
NC_000001.10:g.11854800_11854801delinsC , CM000663.1:g.11854800_11854801delinsC	GRCh37
NC_000001.9:g.11777387_11777388delinsC	NCBI36
NG_013351.1:g.16360_16361delinsG , LRG_726:g.16360_16361delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1274_1275delinsG	ENSP00000365770.1:p.Phe425CysfsTer17
ENST00000376590.9:c.1151_1152delinsG MANE Select	ENSP00000365775.3:p.Phe384CysfsTer17
ENST00000376592.6:c.1151_1152delinsG	ENSP00000365777.1:p.Phe384CysfsTer17
ENST00000423400.7:c.1271_1272delinsG	ENSP00000398908.3:p.Phe424CysfsTer17
ENST00000641407.1:c.1151_1152delinsG	ENSP00000493098.1:p.Phe384CysfsTer17
ENST00000641446.1:c.1151_1152delinsG	ENSP00000493262.1:p.Phe384CysfsTer17
ENST00000641747.1:c.*663_*664delinsG	ENSP00000493116.1:n.*663_*664delinsG
ENST00000641759.1:n.1520_1521delinsG
ENST00000641805.1:n.1668_1669delinsG
ENST00000641820.1:c.416_417delinsG	ENSP00000492937.1:p.Phe139CysfsTer17
ENST00000376583.7:c.1274_1275delinsG	ENSP00000365767.3:p.Phe425CysfsTer17
ENST00000376585.5:c.1274_1275delinsG	ENSP00000365770.1:p.Phe425CysfsTer17
ENST00000376590.7:c.1151_1152delinsG	ENSP00000365775.3:p.Phe384CysfsTer17
ENST00000376592.5:c.1151_1152delinsG	ENSP00000365777.1:p.Phe384CysfsTer17
NM_005957.4:c.1151_1152delinsG , LRG_726t1:c.1151_1152delinsG	NP_005948.3:p.Phe384CysfsTer17
XM_005263458.2:c.1274_1275delinsG	XP_005263515.1:p.Phe425CysfsTer17
XM_005263460.3:c.1151_1152delinsG	XP_005263517.1:p.Phe384CysfsTer17
XM_005263461.3:c.1151_1152delinsG	XP_005263518.1:p.Phe384CysfsTer17
XM_005263462.3:c.1151_1152delinsG	XP_005263519.1:p.Phe384CysfsTer17
XM_005263463.2:c.905_906delinsG	XP_005263520.1:p.Phe302CysfsTer17
XM_011541495.1:c.1271_1272delinsG	XP_011539797.1:p.Phe424CysfsTer17
XM_011541496.1:c.1274_1275delinsG	XP_011539798.1:p.Phe425CysfsTer17
NM_001330358.1:c.1274_1275delinsG	NP_001317287.1:p.Phe425CysfsTer17
XM_005263460.5:c.1151_1152delinsG	XP_005263517.1:p.Phe384CysfsTer17
XM_005263462.4:c.1151_1152delinsG	XP_005263519.1:p.Phe384CysfsTer17
XM_005263463.4:c.905_906delinsG	XP_005263520.1:p.Phe302CysfsTer17
XM_011541495.3:c.1271_1272delinsG	XP_011539797.1:p.Phe424CysfsTer17
XM_011541496.3:c.1274_1275delinsG	XP_011539798.1:p.Phe425CysfsTer17
XM_017001328.2:c.1274_1275delinsG	XP_016856817.1:p.Phe425CysfsTer17
XM_024447198.1:c.905_906delinsG	XP_024302966.1:p.Phe302CysfsTer17
XR_002956640.1:n.2252_2253delinsG
NM_005957.5:c.1151_1152delinsG MANE Select	NP_005948.3:p.Phe384CysfsTer17
NM_001330358.2:c.1274_1275delinsG	NP_001317287.1:p.Phe425CysfsTer17