Canonical Allele Identifier: CA2643297013

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11796489-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796489_11796490insT , CM000663.2:g.11796489_11796490insT	GRCh38
NC_000001.10:g.11856546_11856547insT , CM000663.1:g.11856546_11856547insT	GRCh37
NC_000001.9:g.11779133_11779134insT	NCBI36
NG_013351.1:g.14614_14615insA , LRG_726:g.14614_14615insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.587-91_587-90insA	ENSP00000365669.3:n.587-91_587-90insA
ENST00000376585.6:c.710-91_710-90insA	ENSP00000365770.1:n.710-91_710-90insA
ENST00000376590.9:c.587-91_587-90insA MANE Select	ENSP00000365775.3:n.587-91_587-90insA
ENST00000376592.6:c.587-91_587-90insA	ENSP00000365777.1:n.587-91_587-90insA
ENST00000423400.7:c.707-91_707-90insA	ENSP00000398908.3:n.707-91_707-90insA
ENST00000641407.1:c.587-91_587-90insA	ENSP00000493098.1:n.587-91_587-90insA
ENST00000641446.1:c.587-91_587-90insA	ENSP00000493262.1:n.587-91_587-90insA
ENST00000641721.1:n.644-1142_644-1141insA
ENST00000641747.1:c.*99-91_*99-90insA	ENSP00000493116.1:n.*99-91_*99-90insA
ENST00000641759.1:n.722-91_722-90insA
ENST00000641805.1:n.870-91_870-90insA
ENST00000641820.1:c.-240_-239insA	ENSP00000492937.1:n.-240_-239insA
ENST00000376583.7:c.710-91_710-90insA	ENSP00000365767.3:n.710-91_710-90insA
ENST00000376585.5:c.710-91_710-90insA	ENSP00000365770.1:n.710-91_710-90insA
ENST00000376590.7:c.587-91_587-90insA	ENSP00000365775.3:n.587-91_587-90insA
ENST00000376592.5:c.587-91_587-90insA	ENSP00000365777.1:n.587-91_587-90insA
NM_005957.4:c.587-91_587-90insA , LRG_726t1:c.587-91_587-90insA	NP_005948.3:n.587-91_587-90insA
XM_005263458.2:c.710-91_710-90insA	XP_005263515.1:n.710-91_710-90insA
XM_005263460.3:c.587-91_587-90insA	XP_005263517.1:n.587-91_587-90insA
XM_005263461.3:c.587-91_587-90insA	XP_005263518.1:n.587-91_587-90insA
XM_005263462.3:c.587-91_587-90insA	XP_005263519.1:n.587-91_587-90insA
XM_005263463.2:c.341-91_341-90insA	XP_005263520.1:n.341-91_341-90insA
XM_011541495.1:c.707-91_707-90insA	XP_011539797.1:n.707-91_707-90insA
XM_011541496.1:c.710-91_710-90insA	XP_011539798.1:n.710-91_710-90insA
NM_001330358.1:c.710-91_710-90insA	NP_001317287.1:n.710-91_710-90insA
XM_005263460.5:c.587-91_587-90insA	XP_005263517.1:n.587-91_587-90insA
XM_005263462.4:c.587-91_587-90insA	XP_005263519.1:n.587-91_587-90insA
XM_005263463.4:c.341-91_341-90insA	XP_005263520.1:n.341-91_341-90insA
XM_011541495.3:c.707-91_707-90insA	XP_011539797.1:n.707-91_707-90insA
XM_011541496.3:c.710-91_710-90insA	XP_011539798.1:n.710-91_710-90insA
XM_017001328.2:c.710-91_710-90insA	XP_016856817.1:n.710-91_710-90insA
XM_024447198.1:c.341-91_341-90insA	XP_024302966.1:n.341-91_341-90insA
XR_002956640.1:n.1454-91_1454-90insA
NM_005957.5:c.587-91_587-90insA MANE Select	NP_005948.3:n.587-91_587-90insA
NM_001330358.2:c.710-91_710-90insA	NP_001317287.1:n.710-91_710-90insA