Canonical Allele Identifier: CA2643296204

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11795215-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795217del , CM000663.2:g.11795217del	GRCh38
NC_000001.10:g.11855274del , CM000663.1:g.11855274del	GRCh37
NC_000001.9:g.11777861del	NCBI36
NG_013351.1:g.15888del , LRG_726:g.15888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1036del	ENSP00000365770.1:p.Leu346CysfsTer29
ENST00000376590.9:c.913del MANE Select	ENSP00000365775.3:p.Leu305CysfsTer29
ENST00000376592.6:c.913del	ENSP00000365777.1:p.Leu305CysfsTer29
ENST00000423400.7:c.1033del	ENSP00000398908.3:p.Leu345CysfsTer29
ENST00000641407.1:c.913del	ENSP00000493098.1:p.Leu305CysfsTer29
ENST00000641446.1:c.913del	ENSP00000493262.1:p.Leu305CysfsTer29
ENST00000641721.1:n.776del
ENST00000641747.1:c.*425del	ENSP00000493116.1:n.*425del
ENST00000641759.1:n.1048del
ENST00000641805.1:n.1196del
ENST00000641820.1:c.178del	ENSP00000492937.1:p.Leu60CysfsTer29
ENST00000376583.7:c.1036del	ENSP00000365767.3:p.Leu346CysfsTer29
ENST00000376585.5:c.1036del	ENSP00000365770.1:p.Leu346CysfsTer29
ENST00000376590.7:c.913del	ENSP00000365775.3:p.Leu305CysfsTer29
ENST00000376592.5:c.913del	ENSP00000365777.1:p.Leu305CysfsTer29
NM_005957.4:c.913del , LRG_726t1:c.913del	NP_005948.3:p.Leu305CysfsTer29
XM_005263458.2:c.1036del	XP_005263515.1:p.Leu346CysfsTer29
XM_005263460.3:c.913del	XP_005263517.1:p.Leu305CysfsTer29
XM_005263461.3:c.913del	XP_005263518.1:p.Leu305CysfsTer29
XM_005263462.3:c.913del	XP_005263519.1:p.Leu305CysfsTer29
XM_005263463.2:c.667del	XP_005263520.1:p.Leu223CysfsTer29
XM_011541495.1:c.1033del	XP_011539797.1:p.Leu345CysfsTer29
XM_011541496.1:c.1036del	XP_011539798.1:p.Leu346CysfsTer29
NM_001330358.1:c.1036del	NP_001317287.1:p.Leu346CysfsTer29
XM_005263460.5:c.913del	XP_005263517.1:p.Leu305CysfsTer29
XM_005263462.4:c.913del	XP_005263519.1:p.Leu305CysfsTer29
XM_005263463.4:c.667del	XP_005263520.1:p.Leu223CysfsTer29
XM_011541495.3:c.1033del	XP_011539797.1:p.Leu345CysfsTer29
XM_011541496.3:c.1036del	XP_011539798.1:p.Leu346CysfsTer29
XM_017001328.2:c.1036del	XP_016856817.1:p.Leu346CysfsTer29
XM_024447198.1:c.667del	XP_024302966.1:p.Leu223CysfsTer29
XR_002956640.1:n.1780del
NM_005957.5:c.913del MANE Select	NP_005948.3:p.Leu305CysfsTer29
NM_001330358.2:c.1036del	NP_001317287.1:p.Leu346CysfsTer29