Canonical Allele Identifier: CA2643297011

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11796489-C-CCCCAAAGCAGAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796490_11796491insCCAAAGCAGAGGAC , CM000663.2:g.11796490_11796491insCCAAAGCAGAGGAC	GRCh38
NC_000001.10:g.11856547_11856548insCCAAAGCAGAGGAC , CM000663.1:g.11856547_11856548insCCAAAGCAGAGGAC	GRCh37
NC_000001.9:g.11779134_11779135insCCAAAGCAGAGGAC	NCBI36
NG_013351.1:g.14614_14615insTCCTCTGCTTTGGG , LRG_726:g.14614_14615insTCCTCTGCTTTGGG

Transcript Alleles

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