Canonical Allele Identifier: CA1139771705

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792369dup , CM000663.2:g.11792369dup	GRCh38
NC_000001.10:g.11852426dup , CM000663.1:g.11852426dup	GRCh37
NC_000001.9:g.11775013dup	NCBI36
NG_013351.1:g.18735dup , LRG_726:g.18735dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1664dup	ENSP00000365770.1:p.Phe556ValfsTer23
ENST00000376590.9:c.1541dup MANE Select	ENSP00000365775.3:p.Phe515ValfsTer23
ENST00000376592.6:c.1541dup	ENSP00000365777.1:p.Phe515ValfsTer23
ENST00000423400.7:c.1661dup	ENSP00000398908.3:p.Phe555ValfsTer23
ENST00000641407.1:c.1541dup	ENSP00000493098.1:p.Phe515ValfsTer23
ENST00000641446.1:c.1541dup	ENSP00000493262.1:p.Phe515ValfsTer23
ENST00000641747.1:c.*1053dup	ENSP00000493116.1:n.*1053dup
ENST00000641759.1:n.1910dup
ENST00000641805.1:n.2058dup
ENST00000641820.1:c.806dup	ENSP00000492937.1:p.Phe270ValfsTer23
ENST00000376583.7:c.1664dup	ENSP00000365767.3:p.Phe556ValfsTer23
ENST00000376585.5:c.1664dup	ENSP00000365770.1:p.Phe556ValfsTer23
ENST00000376590.7:c.1541dup	ENSP00000365775.3:p.Phe515ValfsTer23
ENST00000376592.5:c.1541dup	ENSP00000365777.1:p.Phe515ValfsTer23
NM_005957.4:c.1541dup , LRG_726t1:c.1541dup	NP_005948.3:p.Phe515ValfsTer23
XM_005263458.2:c.1664dup	XP_005263515.1:p.Phe556ValfsTer23
XM_005263460.3:c.1541dup	XP_005263517.1:p.Phe515ValfsTer23
XM_005263461.3:c.1541dup	XP_005263518.1:p.Phe515ValfsTer23
XM_005263462.3:c.1541dup	XP_005263519.1:p.Phe515ValfsTer23
XM_005263463.2:c.1295dup	XP_005263520.1:p.Phe433ValfsTer23
XM_011541495.1:c.1661dup	XP_011539797.1:p.Phe555ValfsTer23
XM_011541496.1:c.1664dup	XP_011539798.1:p.Phe556ValfsTer23
NM_001330358.1:c.1664dup	NP_001317287.1:p.Phe556ValfsTer23
XM_005263460.5:c.1541dup	XP_005263517.1:p.Phe515ValfsTer23
XM_005263462.4:c.1541dup	XP_005263519.1:p.Phe515ValfsTer23
XM_005263463.4:c.1295dup	XP_005263520.1:p.Phe433ValfsTer23
XM_011541495.3:c.1661dup	XP_011539797.1:p.Phe555ValfsTer23
XM_011541496.3:c.1664dup	XP_011539798.1:p.Phe556ValfsTer23
XM_017001328.2:c.1664dup	XP_016856817.1:p.Phe556ValfsTer23
XM_024447198.1:c.1295dup	XP_024302966.1:p.Phe433ValfsTer23
XR_002956640.1:n.2642dup
NM_005957.5:c.1541dup MANE Select	NP_005948.3:p.Phe515ValfsTer23
NM_001330358.2:c.1664dup	NP_001317287.1:p.Phe556ValfsTer23