Canonical Allele Identifier: CA2643296853

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11796247-CCATGTCGGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796252_11796261del , CM000663.2:g.11796252_11796261del	GRCh38
NC_000001.10:g.11856309_11856318del , CM000663.1:g.11856309_11856318del	GRCh37
NC_000001.9:g.11778896_11778905del	NCBI36
NG_013351.1:g.14847_14856del , LRG_726:g.14847_14856del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.852_861del	ENSP00000365770.1:p.Cys284TrpfsTer24
ENST00000376590.9:c.729_738del MANE Select	ENSP00000365775.3:p.Cys243TrpfsTer24
ENST00000376592.6:c.729_738del	ENSP00000365777.1:p.Cys243TrpfsTer24
ENST00000423400.7:c.849_858del	ENSP00000398908.3:p.Cys283TrpfsTer24
ENST00000641407.1:c.729_738del	ENSP00000493098.1:p.Cys243TrpfsTer24
ENST00000641446.1:c.729_738del	ENSP00000493262.1:p.Cys243TrpfsTer24
ENST00000641721.1:n.644-909_644-900del
ENST00000641747.1:c.*241_*250del	ENSP00000493116.1:n.*241_*250del
ENST00000641759.1:n.864_873del
ENST00000641805.1:n.1012_1021del
ENST00000641820.1:c.-7_3del	ENSP00000492937.1:n.-7_3del
ENST00000376583.7:c.852_861del	ENSP00000365767.3:p.Cys284TrpfsTer24
ENST00000376585.5:c.852_861del	ENSP00000365770.1:p.Cys284TrpfsTer24
ENST00000376590.7:c.729_738del	ENSP00000365775.3:p.Cys243TrpfsTer24
ENST00000376592.5:c.729_738del	ENSP00000365777.1:p.Cys243TrpfsTer24
NM_005957.4:c.729_738del , LRG_726t1:c.729_738del	NP_005948.3:p.Cys243TrpfsTer24
XM_005263458.2:c.852_861del	XP_005263515.1:p.Cys284TrpfsTer24
XM_005263460.3:c.729_738del	XP_005263517.1:p.Cys243TrpfsTer24
XM_005263461.3:c.729_738del	XP_005263518.1:p.Cys243TrpfsTer24
XM_005263462.3:c.729_738del	XP_005263519.1:p.Cys243TrpfsTer24
XM_005263463.2:c.483_492del	XP_005263520.1:p.Cys161TrpfsTer24
XM_011541495.1:c.849_858del	XP_011539797.1:p.Cys283TrpfsTer24
XM_011541496.1:c.852_861del	XP_011539798.1:p.Cys284TrpfsTer24
NM_001330358.1:c.852_861del	NP_001317287.1:p.Cys284TrpfsTer24
XM_005263460.5:c.729_738del	XP_005263517.1:p.Cys243TrpfsTer24
XM_005263462.4:c.729_738del	XP_005263519.1:p.Cys243TrpfsTer24
XM_005263463.4:c.483_492del	XP_005263520.1:p.Cys161TrpfsTer24
XM_011541495.3:c.849_858del	XP_011539797.1:p.Cys283TrpfsTer24
XM_011541496.3:c.852_861del	XP_011539798.1:p.Cys284TrpfsTer24
XM_017001328.2:c.852_861del	XP_016856817.1:p.Cys284TrpfsTer24
XM_024447198.1:c.483_492del	XP_024302966.1:p.Cys161TrpfsTer24
XR_002956640.1:n.1596_1605del
NM_005957.5:c.729_738del MANE Select	NP_005948.3:p.Cys243TrpfsTer24
NM_001330358.2:c.852_861del	NP_001317287.1:p.Cys284TrpfsTer24