Canonical Allele Identifier: CA2643302044

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11791074-T-TGTCACTGCTGACGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791075_11791076insTCACTGCTGACGCAG , CM000663.2:g.11791075_11791076insTCACTGCTGACGCAG	GRCh38
NC_000001.10:g.11851132_11851133insTCACTGCTGACGCAG , CM000663.1:g.11851132_11851133insTCACTGCTGACGCAG	GRCh37
NC_000001.9:g.11773719_11773720insTCACTGCTGACGCAG	NCBI36
NG_013351.1:g.20029_20030insTGCGTCAGCAGTGAC , LRG_726:g.20029_20030insTGCGTCAGCAGTGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1875+132_1875+133insTGCGTCAGCAGTGAC	ENSP00000365770.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
ENST00000376590.9:c.1752+132_1752+133insTGCGTCAGCAGTGAC MANE Select	ENSP00000365775.3:n.1752+132_1752+133insTGCGTCAGCAGTGAC
ENST00000376592.6:c.1752+132_1752+133insTGCGTCAGCAGTGAC	ENSP00000365777.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
ENST00000423400.7:c.1872+132_1872+133insTGCGTCAGCAGTGAC	ENSP00000398908.3:n.1872+132_1872+133insTGCGTCAGCAGTGAC
ENST00000641407.1:c.1752+132_1752+133insTGCGTCAGCAGTGAC	ENSP00000493098.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
ENST00000641446.1:c.*211+132_*211+133insTGCGTCAGCAGTGAC	ENSP00000493262.1:n.*211+132_*211+133insTGCGTCAGCAGTGAC
ENST00000641747.1:c.*1264+132_*1264+133insTGCGTCAGCAGTGAC	ENSP00000493116.1:n.*1264+132_*1264+133insTGCGTCAGCAGTGAC
ENST00000641759.1:n.2121+132_2121+133insTGCGTCAGCAGTGAC
ENST00000641805.1:n.2269+132_2269+133insTGCGTCAGCAGTGAC
ENST00000641820.1:c.1017+132_1017+133insTGCGTCAGCAGTGAC	ENSP00000492937.1:n.1017+132_1017+133insTGCGTCAGCAGTGAC
ENST00000376583.7:c.1875+132_1875+133insTGCGTCAGCAGTGAC	ENSP00000365767.3:n.1875+132_1875+133insTGCGTCAGCAGTGAC
ENST00000376585.5:c.1875+132_1875+133insTGCGTCAGCAGTGAC	ENSP00000365770.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
ENST00000376590.7:c.1752+132_1752+133insTGCGTCAGCAGTGAC	ENSP00000365775.3:n.1752+132_1752+133insTGCGTCAGCAGTGAC
ENST00000376592.5:c.1752+132_1752+133insTGCGTCAGCAGTGAC	ENSP00000365777.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
NM_005957.4:c.1752+132_1752+133insTGCGTCAGCAGTGAC , LRG_726t1:c.1752+132_1752+133insTGCGTCAGCAGTGAC	NP_005948.3:n.1752+132_1752+133insTGCGTCAGCAGTGAC
XM_005263458.2:c.1875+132_1875+133insTGCGTCAGCAGTGAC	XP_005263515.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
XM_005263460.3:c.1752+132_1752+133insTGCGTCAGCAGTGAC	XP_005263517.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
XM_005263461.3:c.1752+132_1752+133insTGCGTCAGCAGTGAC	XP_005263518.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
XM_005263462.3:c.1752+132_1752+133insTGCGTCAGCAGTGAC	XP_005263519.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
XM_005263463.2:c.1506+132_1506+133insTGCGTCAGCAGTGAC	XP_005263520.1:n.1506+132_1506+133insTGCGTCAGCAGTGAC
XM_011541495.1:c.1872+132_1872+133insTGCGTCAGCAGTGAC	XP_011539797.1:n.1872+132_1872+133insTGCGTCAGCAGTGAC
XM_011541496.1:c.1875+132_1875+133insTGCGTCAGCAGTGAC	XP_011539798.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
NM_001330358.1:c.1875+132_1875+133insTGCGTCAGCAGTGAC	NP_001317287.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
XM_005263460.5:c.1752+132_1752+133insTGCGTCAGCAGTGAC	XP_005263517.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
XM_005263462.4:c.1752+132_1752+133insTGCGTCAGCAGTGAC	XP_005263519.1:n.1752+132_1752+133insTGCGTCAGCAGTGAC
XM_005263463.4:c.1506+132_1506+133insTGCGTCAGCAGTGAC	XP_005263520.1:n.1506+132_1506+133insTGCGTCAGCAGTGAC
XM_011541495.3:c.1872+132_1872+133insTGCGTCAGCAGTGAC	XP_011539797.1:n.1872+132_1872+133insTGCGTCAGCAGTGAC
XM_011541496.3:c.1875+132_1875+133insTGCGTCAGCAGTGAC	XP_011539798.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
XM_017001328.2:c.1875+132_1875+133insTGCGTCAGCAGTGAC	XP_016856817.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC
XM_024447198.1:c.1506+132_1506+133insTGCGTCAGCAGTGAC	XP_024302966.1:n.1506+132_1506+133insTGCGTCAGCAGTGAC
XR_002956640.1:n.2853+132_2853+133insTGCGTCAGCAGTGAC
NM_005957.5:c.1752+132_1752+133insTGCGTCAGCAGTGAC MANE Select	NP_005948.3:n.1752+132_1752+133insTGCGTCAGCAGTGAC
NM_001330358.2:c.1875+132_1875+133insTGCGTCAGCAGTGAC	NP_001317287.1:n.1875+132_1875+133insTGCGTCAGCAGTGAC