Canonical Allele Identifier: CA2695352387

Gene: MTHFR

Linked Data

• dbSNP Id: rs2100490526

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790268_11790270dup , CM000663.2:g.11790268_11790270dup	GRCh38
NC_000001.10:g.11850325_11850327dup , CM000663.1:g.11850325_11850327dup	GRCh37
NC_000001.9:g.11772912_11772914dup	NCBI36
NG_013351.1:g.20836_20838dup , LRG_726:g.20836_20838dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*412_*414dup	ENSP00000365770.1:n.*412_*414dup
ENST00000376590.9:c.*412_*414dup MANE Select	ENSP00000365775.3:n.*412_*414dup
ENST00000376592.6:c.*412_*414dup	ENSP00000365777.1:n.*412_*414dup
ENST00000423400.7:c.*412_*414dup	ENSP00000398908.3:n.*412_*414dup
ENST00000641446.1:c.*842_*844dup	ENSP00000493262.1:n.*842_*844dup
ENST00000641747.1:c.*1895_*1897dup	ENSP00000493116.1:n.*1895_*1897dup
ENST00000641805.1:n.2718_2720dup
ENST00000376583.7:c.2506_2508dup	ENSP00000365767.3:n.2506_2508dup
ENST00000376585.5:c.*412_*414dup	ENSP00000365770.1:n.*412_*414dup
ENST00000376590.7:c.*412_*414dup	ENSP00000365775.3:n.*412_*414dup
ENST00000376592.5:c.*412_*414dup	ENSP00000365777.1:n.*412_*414dup
NM_005957.4:c.*412_*414dup , LRG_726t1:c.*412_*414dup	NP_005948.3:n.*412_*414dup
XM_005263458.2:c.*412_*414dup	XP_005263515.1:n.*412_*414dup
XM_005263460.3:c.*412_*414dup	XP_005263517.1:n.*412_*414dup
XM_005263461.3:c.*412_*414dup	XP_005263518.1:n.*412_*414dup
XM_005263462.3:c.*412_*414dup	XP_005263519.1:n.*412_*414dup
XM_005263463.2:c.*412_*414dup	XP_005263520.1:n.*412_*414dup
XM_011541495.1:c.*412_*414dup	XP_011539797.1:n.*412_*414dup
XM_011541496.1:c.*272_*274dup	XP_011539798.1:n.*272_*274dup
NM_001330358.1:c.*412_*414dup	NP_001317287.1:n.*412_*414dup
XM_005263460.5:c.*412_*414dup	XP_005263517.1:n.*412_*414dup
XM_005263462.4:c.*412_*414dup	XP_005263519.1:n.*412_*414dup
XM_005263463.4:c.*412_*414dup	XP_005263520.1:n.*412_*414dup
XM_011541495.3:c.*412_*414dup	XP_011539797.1:n.*412_*414dup
XM_011541496.3:c.*272_*274dup	XP_011539798.1:n.*272_*274dup
XM_024447198.1:c.*412_*414dup	XP_024302966.1:n.*412_*414dup
NM_005957.5:c.*412_*414dup MANE Select	NP_005948.3:n.*412_*414dup
NM_001330358.2:c.*412_*414dup	NP_001317287.1:n.*412_*414dup