Canonical Allele Identifier: CA998624565

Gene: MTHFR

Linked Data

• dbSNP Id: rs1644425401
• gnomAD v3: 1-11802991-AT-A
• gnomAD v4: 1-11802991-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802992del , CM000663.2:g.11802992del	GRCh38
NC_000001.10:g.11863049del , CM000663.1:g.11863049del	GRCh37
NC_000001.9:g.11785636del	NCBI36
NG_008766.1:g.1843del
NG_013351.1:g.8112del , LRG_726:g.8112del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.125del	ENSP00000365669.3:p.His42LeufsTer8
ENST00000376585.6:c.248del	ENSP00000365770.1:p.His83LeufsTer8
ENST00000376590.9:c.125del MANE Select	ENSP00000365775.3:p.His42LeufsTer8
ENST00000376592.6:c.125del	ENSP00000365777.1:p.His42LeufsTer8
ENST00000423400.7:c.245del	ENSP00000398908.3:p.His82LeufsTer8
ENST00000431243.6:n.906del
ENST00000641407.1:c.125del	ENSP00000493098.1:p.His42LeufsTer8
ENST00000641437.1:n.257del
ENST00000641446.1:c.125del	ENSP00000493262.1:p.His42LeufsTer8
ENST00000641721.1:n.182del
ENST00000641747.1:c.125del	ENSP00000493116.1:p.His42LeufsTer8
ENST00000641759.1:n.260del
ENST00000641805.1:n.408del
ENST00000641909.1:n.535del
ENST00000642002.1:n.354del
ENST00000376583.7:c.248del	ENSP00000365767.3:p.His83LeufsTer8
ENST00000376585.5:c.248del	ENSP00000365770.1:p.His83LeufsTer8
ENST00000376590.7:c.125del	ENSP00000365775.3:p.His42LeufsTer8
ENST00000376592.5:c.125del	ENSP00000365777.1:p.His42LeufsTer8
ENST00000418034.1:c.125del	ENSP00000405082.1:p.His42LeufsTer8
NM_005957.4:c.125del , LRG_726t1:c.125del	NP_005948.3:p.His42LeufsTer8
XM_005263458.2:c.248del	XP_005263515.1:p.His83LeufsTer8
XM_005263460.3:c.125del	XP_005263517.1:p.His42LeufsTer8
XM_005263461.3:c.125del	XP_005263518.1:p.His42LeufsTer8
XM_005263462.3:c.125del	XP_005263519.1:p.His42LeufsTer8
XM_005263463.2:c.-139del	XP_005263520.1:n.-139del
XM_011541495.1:c.245del	XP_011539797.1:p.His82LeufsTer8
XM_011541496.1:c.248del	XP_011539798.1:p.His83LeufsTer8
NM_001330358.1:c.248del	NP_001317287.1:p.His83LeufsTer8
XM_005263460.5:c.125del	XP_005263517.1:p.His42LeufsTer8
XM_005263462.4:c.125del	XP_005263519.1:p.His42LeufsTer8
XM_005263463.4:c.-139del	XP_005263520.1:n.-139del
XM_011541495.3:c.245del	XP_011539797.1:p.His82LeufsTer8
XM_011541496.3:c.248del	XP_011539798.1:p.His83LeufsTer8
XM_017001328.2:c.248del	XP_016856817.1:p.His83LeufsTer8
XM_024447198.1:c.-139del	XP_024302966.1:n.-139del
XR_002956640.1:n.992del
NM_005957.5:c.125del MANE Select	NP_005948.3:p.His42LeufsTer8
NM_001330358.2:c.248del	NP_001317287.1:p.His83LeufsTer8