Canonical Allele Identifier: CA2643302038

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11791071-A-ACTCACC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11791072_11791073insTCACCC , CM000663.2:g.11791072_11791073insTCACCC	GRCh38
NC_000001.10:g.11851129_11851130insTCACCC , CM000663.1:g.11851129_11851130insTCACCC	GRCh37
NC_000001.9:g.11773716_11773717insTCACCC	NCBI36
NG_013351.1:g.20032_20033insGGTGAG , LRG_726:g.20032_20033insGGTGAG

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1875+135_1875+136insGGTGAG	ENSP00000365770.1:n.1875+135_1875+136insGGTGAG
ENST00000376590.9:c.1752+135_1752+136insGGTGAG MANE Select	ENSP00000365775.3:n.1752+135_1752+136insGGTGAG
ENST00000376592.6:c.1752+135_1752+136insGGTGAG	ENSP00000365777.1:n.1752+135_1752+136insGGTGAG
ENST00000423400.7:c.1872+135_1872+136insGGTGAG	ENSP00000398908.3:n.1872+135_1872+136insGGTGAG
ENST00000641407.1:c.1752+135_1752+136insGGTGAG	ENSP00000493098.1:n.1752+135_1752+136insGGTGAG
ENST00000641446.1:c.*211+135_*211+136insGGTGAG	ENSP00000493262.1:n.*211+135_*211+136insGGTGAG
ENST00000641747.1:c.*1264+135_*1264+136insGGTGAG	ENSP00000493116.1:n.*1264+135_*1264+136insGGTGAG
ENST00000641759.1:n.2121+135_2121+136insGGTGAG
ENST00000641805.1:n.2269+135_2269+136insGGTGAG
ENST00000641820.1:c.1017+135_1017+136insGGTGAG	ENSP00000492937.1:n.1017+135_1017+136insGGTGAG
ENST00000376583.7:c.1875+135_1875+136insGGTGAG	ENSP00000365767.3:n.1875+135_1875+136insGGTGAG
ENST00000376585.5:c.1875+135_1875+136insGGTGAG	ENSP00000365770.1:n.1875+135_1875+136insGGTGAG
ENST00000376590.7:c.1752+135_1752+136insGGTGAG	ENSP00000365775.3:n.1752+135_1752+136insGGTGAG
ENST00000376592.5:c.1752+135_1752+136insGGTGAG	ENSP00000365777.1:n.1752+135_1752+136insGGTGAG
NM_005957.4:c.1752+135_1752+136insGGTGAG , LRG_726t1:c.1752+135_1752+136insGGTGAG	NP_005948.3:n.1752+135_1752+136insGGTGAG
XM_005263458.2:c.1875+135_1875+136insGGTGAG	XP_005263515.1:n.1875+135_1875+136insGGTGAG
XM_005263460.3:c.1752+135_1752+136insGGTGAG	XP_005263517.1:n.1752+135_1752+136insGGTGAG
XM_005263461.3:c.1752+135_1752+136insGGTGAG	XP_005263518.1:n.1752+135_1752+136insGGTGAG
XM_005263462.3:c.1752+135_1752+136insGGTGAG	XP_005263519.1:n.1752+135_1752+136insGGTGAG
XM_005263463.2:c.1506+135_1506+136insGGTGAG	XP_005263520.1:n.1506+135_1506+136insGGTGAG
XM_011541495.1:c.1872+135_1872+136insGGTGAG	XP_011539797.1:n.1872+135_1872+136insGGTGAG
XM_011541496.1:c.1875+135_1875+136insGGTGAG	XP_011539798.1:n.1875+135_1875+136insGGTGAG
NM_001330358.1:c.1875+135_1875+136insGGTGAG	NP_001317287.1:n.1875+135_1875+136insGGTGAG
XM_005263460.5:c.1752+135_1752+136insGGTGAG	XP_005263517.1:n.1752+135_1752+136insGGTGAG
XM_005263462.4:c.1752+135_1752+136insGGTGAG	XP_005263519.1:n.1752+135_1752+136insGGTGAG
XM_005263463.4:c.1506+135_1506+136insGGTGAG	XP_005263520.1:n.1506+135_1506+136insGGTGAG
XM_011541495.3:c.1872+135_1872+136insGGTGAG	XP_011539797.1:n.1872+135_1872+136insGGTGAG
XM_011541496.3:c.1875+135_1875+136insGGTGAG	XP_011539798.1:n.1875+135_1875+136insGGTGAG
XM_017001328.2:c.1875+135_1875+136insGGTGAG	XP_016856817.1:n.1875+135_1875+136insGGTGAG
XM_024447198.1:c.1506+135_1506+136insGGTGAG	XP_024302966.1:n.1506+135_1506+136insGGTGAG
XR_002956640.1:n.2853+135_2853+136insGGTGAG
NM_005957.5:c.1752+135_1752+136insGGTGAG MANE Select	NP_005948.3:n.1752+135_1752+136insGGTGAG
NM_001330358.2:c.1875+135_1875+136insGGTGAG	NP_001317287.1:n.1875+135_1875+136insGGTGAG