Canonical Allele Identifier: CA2643302080

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11791086-A-AGCTGGGTGTGCCCTGAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791094_11791111dup , CM000663.2:g.11791094_11791111dup	GRCh38
NC_000001.10:g.11851151_11851168dup , CM000663.1:g.11851151_11851168dup	GRCh37
NC_000001.9:g.11773738_11773755dup	NCBI36
NG_013351.1:g.20000_20017dup , LRG_726:g.20000_20017dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1875+103_1875+120dup	ENSP00000365770.1:n.1875+103_1875+120dup
ENST00000376590.9:c.1752+103_1752+120dup MANE Select	ENSP00000365775.3:n.1752+103_1752+120dup
ENST00000376592.6:c.1752+103_1752+120dup	ENSP00000365777.1:n.1752+103_1752+120dup
ENST00000423400.7:c.1872+103_1872+120dup	ENSP00000398908.3:n.1872+103_1872+120dup
ENST00000641407.1:c.1752+103_1752+120dup	ENSP00000493098.1:n.1752+103_1752+120dup
ENST00000641446.1:c.*211+103_*211+120dup	ENSP00000493262.1:n.*211+103_*211+120dup
ENST00000641747.1:c.*1264+103_*1264+120dup	ENSP00000493116.1:n.*1264+103_*1264+120du...
ENST00000641759.1:n.2121+103_2121+120dup
ENST00000641805.1:n.2269+103_2269+120dup
ENST00000641820.1:c.1017+103_1017+120dup	ENSP00000492937.1:n.1017+103_1017+120dup
ENST00000376583.7:c.1875+103_1875+120dup	ENSP00000365767.3:n.1875+103_1875+120dup
ENST00000376585.5:c.1875+103_1875+120dup	ENSP00000365770.1:n.1875+103_1875+120dup
ENST00000376590.7:c.1752+103_1752+120dup	ENSP00000365775.3:n.1752+103_1752+120dup
ENST00000376592.5:c.1752+103_1752+120dup	ENSP00000365777.1:n.1752+103_1752+120dup
NM_005957.4:c.1752+103_1752+120dup , LRG_726t1:c.1752+103_1752+120dup	NP_005948.3:n.1752+103_1752+120dup
XM_005263458.2:c.1875+103_1875+120dup	XP_005263515.1:n.1875+103_1875+120dup
XM_005263460.3:c.1752+103_1752+120dup	XP_005263517.1:n.1752+103_1752+120dup
XM_005263461.3:c.1752+103_1752+120dup	XP_005263518.1:n.1752+103_1752+120dup
XM_005263462.3:c.1752+103_1752+120dup	XP_005263519.1:n.1752+103_1752+120dup
XM_005263463.2:c.1506+103_1506+120dup	XP_005263520.1:n.1506+103_1506+120dup
XM_011541495.1:c.1872+103_1872+120dup	XP_011539797.1:n.1872+103_1872+120dup
XM_011541496.1:c.1875+103_1875+120dup	XP_011539798.1:n.1875+103_1875+120dup
NM_001330358.1:c.1875+103_1875+120dup	NP_001317287.1:n.1875+103_1875+120dup
XM_005263460.5:c.1752+103_1752+120dup	XP_005263517.1:n.1752+103_1752+120dup
XM_005263462.4:c.1752+103_1752+120dup	XP_005263519.1:n.1752+103_1752+120dup
XM_005263463.4:c.1506+103_1506+120dup	XP_005263520.1:n.1506+103_1506+120dup
XM_011541495.3:c.1872+103_1872+120dup	XP_011539797.1:n.1872+103_1872+120dup
XM_011541496.3:c.1875+103_1875+120dup	XP_011539798.1:n.1875+103_1875+120dup
XM_017001328.2:c.1875+103_1875+120dup	XP_016856817.1:n.1875+103_1875+120dup
XM_024447198.1:c.1506+103_1506+120dup	XP_024302966.1:n.1506+103_1506+120dup
XR_002956640.1:n.2853+103_2853+120dup
NM_005957.5:c.1752+103_1752+120dup MANE Select	NP_005948.3:n.1752+103_1752+120dup
NM_001330358.2:c.1875+103_1875+120dup	NP_001317287.1:n.1875+103_1875+120dup