Canonical Allele Identifier: CA2573130466

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1363312
• ClinVar RCV Id: RCV003464183
• dbSNP Id: rs2100495241

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790885del , CM000663.2:g.11790885del	GRCh38
NC_000001.10:g.11850942del , CM000663.1:g.11850942del	GRCh37
NC_000001.9:g.11773529del	NCBI36
NG_013351.1:g.20221del , LRG_726:g.20221del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1891del	ENSP00000365770.1:p.Leu631CysfsTer?
ENST00000376590.9:c.1768del MANE Select	ENSP00000365775.3:p.Leu590CysfsTer?
ENST00000376592.6:c.1768del	ENSP00000365777.1:p.Leu590CysfsTer?
ENST00000423400.7:c.1888del	ENSP00000398908.3:p.Leu630CysfsTer?
ENST00000641407.1:c.1753-167del	ENSP00000493098.1:n.1753-167del
ENST00000641446.1:c.*227del	ENSP00000493262.1:n.*227del
ENST00000641747.1:c.*1280del	ENSP00000493116.1:n.*1280del
ENST00000641759.1:n.2137del
ENST00000641805.1:n.2270-167del
ENST00000641820.1:c.1033del	ENSP00000492937.1:p.Leu345CysfsTer?
ENST00000376583.7:c.1891del	ENSP00000365767.3:p.Leu631CysfsTer?
ENST00000376585.5:c.1891del	ENSP00000365770.1:p.Leu631CysfsTer?
ENST00000376590.7:c.1768del	ENSP00000365775.3:p.Leu590CysfsTer?
ENST00000376592.5:c.1768del	ENSP00000365777.1:p.Leu590CysfsTer?
NM_005957.4:c.1768del , LRG_726t1:c.1768del	NP_005948.3:p.Leu590CysfsTer?
XM_005263458.2:c.1891del	XP_005263515.1:p.Leu631CysfsTer?
XM_005263460.3:c.1768del	XP_005263517.1:p.Leu590CysfsTer?
XM_005263461.3:c.1768del	XP_005263518.1:p.Leu590CysfsTer?
XM_005263462.3:c.1768del	XP_005263519.1:p.Leu590CysfsTer?
XM_005263463.2:c.1522del	XP_005263520.1:p.Leu508CysfsTer?
XM_011541495.1:c.1888del	XP_011539797.1:p.Leu630CysfsTer?
XM_011541496.1:c.1876-167del	XP_011539798.1:n.1876-167del
NM_001330358.1:c.1891del	NP_001317287.1:p.Leu631CysfsTer?
XM_005263460.5:c.1768del	XP_005263517.1:p.Leu590CysfsTer?
XM_005263462.4:c.1768del	XP_005263519.1:p.Leu590CysfsTer?
XM_005263463.4:c.1522del	XP_005263520.1:p.Leu508CysfsTer?
XM_011541495.3:c.1888del	XP_011539797.1:p.Leu630CysfsTer?
XM_011541496.3:c.1876-167del	XP_011539798.1:n.1876-167del
XM_017001328.2:c.1876-135del	XP_016856817.1:n.1876-135del
XM_024447198.1:c.1522del	XP_024302966.1:p.Leu508CysfsTer?
XR_002956640.1:n.2854-167del
NM_005957.5:c.1768del MANE Select	NP_005948.3:p.Leu590CysfsTer?
NM_001330358.2:c.1891del	NP_001317287.1:p.Leu631CysfsTer?