Canonical Allele Identifier: CA2739272283

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 2863880
• ClinVar RCV Id: RCV003635493

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11795254_11795257dup , CM000663.2:g.11795254_11795257dup	GRCh38
NC_000001.10:g.11855311_11855314dup , CM000663.1:g.11855311_11855314dup	GRCh37
NC_000001.9:g.11777898_11777901dup	NCBI36
NG_013351.1:g.15847_15850dup , LRG_726:g.15847_15850dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.995_998dup	ENSP00000365770.1:p.Ala334CysfsTer?
ENST00000376590.9:c.872_875dup MANE Select	ENSP00000365775.3:p.Ala293CysfsTer?
ENST00000376592.6:c.872_875dup	ENSP00000365777.1:p.Ala293CysfsTer?
ENST00000423400.7:c.992_995dup	ENSP00000398908.3:p.Ala333CysfsTer?
ENST00000641407.1:c.872_875dup	ENSP00000493098.1:p.Ala293CysfsTer?
ENST00000641446.1:c.872_875dup	ENSP00000493262.1:p.Ala293CysfsTer?
ENST00000641721.1:n.735_738dup
ENST00000641747.1:c.*384_*387dup	ENSP00000493116.1:n.*384_*387dup
ENST00000641759.1:n.1007_1010dup
ENST00000641805.1:n.1155_1158dup
ENST00000641820.1:c.137_140dup	ENSP00000492937.1:p.Ala48CysfsTer?
ENST00000376583.7:c.995_998dup	ENSP00000365767.3:p.Ala334CysfsTer?
ENST00000376585.5:c.995_998dup	ENSP00000365770.1:p.Ala334CysfsTer?
ENST00000376590.7:c.872_875dup	ENSP00000365775.3:p.Ala293CysfsTer?
ENST00000376592.5:c.872_875dup	ENSP00000365777.1:p.Ala293CysfsTer?
NM_005957.4:c.872_875dup , LRG_726t1:c.872_875dup	NP_005948.3:p.Ala293CysfsTer?
XM_005263458.2:c.995_998dup	XP_005263515.1:p.Ala334CysfsTer?
XM_005263460.3:c.872_875dup	XP_005263517.1:p.Ala293CysfsTer?
XM_005263461.3:c.872_875dup	XP_005263518.1:p.Ala293CysfsTer?
XM_005263462.3:c.872_875dup	XP_005263519.1:p.Ala293CysfsTer?
XM_005263463.2:c.626_629dup	XP_005263520.1:p.Ala211CysfsTer?
XM_011541495.1:c.992_995dup	XP_011539797.1:p.Ala333CysfsTer?
XM_011541496.1:c.995_998dup	XP_011539798.1:p.Ala334CysfsTer?
NM_001330358.1:c.995_998dup	NP_001317287.1:p.Ala334CysfsTer?
XM_005263460.5:c.872_875dup	XP_005263517.1:p.Ala293CysfsTer?
XM_005263462.4:c.872_875dup	XP_005263519.1:p.Ala293CysfsTer?
XM_005263463.4:c.626_629dup	XP_005263520.1:p.Ala211CysfsTer?
XM_011541495.3:c.992_995dup	XP_011539797.1:p.Ala333CysfsTer?
XM_011541496.3:c.995_998dup	XP_011539798.1:p.Ala334CysfsTer?
XM_017001328.2:c.995_998dup	XP_016856817.1:p.Ala334CysfsTer?
XM_024447198.1:c.626_629dup	XP_024302966.1:p.Ala211CysfsTer?
XR_002956640.1:n.1739_1742dup
NM_005957.5:c.872_875dup MANE Select	NP_005948.3:p.Ala293CysfsTer?
NM_001330358.2:c.995_998dup	NP_001317287.1:p.Ala334CysfsTer?