Canonical Allele Identifier: CA1153802764
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796021_11796022delinsTG , CM000663.2:g.11796021_11796022delinsTG GRCh38
NC_000001.10:g.11856078_11856079delinsTG , CM000663.1:g.11856078_11856079delinsTG GRCh37
NC_000001.9:g.11778665_11778666delinsTG NCBI36
NG_013351.1:g.15082_15083delinsCA , LRG_726:g.15082_15083delinsCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.903+184_903+185delinsCA ENSP00000365770.1:n.903+184_903+185delinsCA
ENST00000376590.9:c.780+184_780+185delinsCA MANE Select ENSP00000365775.3:n.780+184_780+185delinsCA
ENST00000376592.6:c.780+184_780+185delinsCA ENSP00000365777.1:n.780+184_780+185delinsCA
ENST00000423400.7:c.900+184_900+185delinsCA ENSP00000398908.3:n.900+184_900+185delinsCA
ENST00000641407.1:c.780+184_780+185delinsCA ENSP00000493098.1:n.780+184_780+185delinsCA
ENST00000641446.1:c.780+184_780+185delinsCA ENSP00000493262.1:n.780+184_780+185delinsCA
ENST00000641721.1:n.644-674_644-673delinsCA
ENST00000641747.1:c.*292+184_*292+185delinsCA ENSP00000493116.1:n.*292+184_*292+185delinsCA
ENST00000641759.1:n.915+184_915+185delinsCA
ENST00000641805.1:n.1063+184_1063+185delinsCA
ENST00000641820.1:c.45+184_45+185delinsCA ENSP00000492937.1:n.45+184_45+185delinsCA
ENST00000376583.7:c.903+184_903+185delinsCA ENSP00000365767.3:n.903+184_903+185delinsCA
ENST00000376585.5:c.903+184_903+185delinsCA ENSP00000365770.1:n.903+184_903+185delinsCA
ENST00000376590.7:c.780+184_780+185delinsCA ENSP00000365775.3:n.780+184_780+185delinsCA
ENST00000376592.5:c.780+184_780+185delinsCA ENSP00000365777.1:n.780+184_780+185delinsCA
NM_005957.4:c.780+184_780+185delinsCA , LRG_726t1:c.780+184_780+185delinsCA NP_005948.3:n.780+184_780+185delinsCA
XM_005263458.2:c.903+184_903+185delinsCA XP_005263515.1:n.903+184_903+185delinsCA
XM_005263460.3:c.780+184_780+185delinsCA XP_005263517.1:n.780+184_780+185delinsCA
XM_005263461.3:c.780+184_780+185delinsCA XP_005263518.1:n.780+184_780+185delinsCA
XM_005263462.3:c.780+184_780+185delinsCA XP_005263519.1:n.780+184_780+185delinsCA
XM_005263463.2:c.534+184_534+185delinsCA XP_005263520.1:n.534+184_534+185delinsCA
XM_011541495.1:c.900+184_900+185delinsCA XP_011539797.1:n.900+184_900+185delinsCA
XM_011541496.1:c.903+184_903+185delinsCA XP_011539798.1:n.903+184_903+185delinsCA
NM_001330358.1:c.903+184_903+185delinsCA NP_001317287.1:n.903+184_903+185delinsCA
XM_005263460.5:c.780+184_780+185delinsCA XP_005263517.1:n.780+184_780+185delinsCA
XM_005263462.4:c.780+184_780+185delinsCA XP_005263519.1:n.780+184_780+185delinsCA
XM_005263463.4:c.534+184_534+185delinsCA XP_005263520.1:n.534+184_534+185delinsCA
XM_011541495.3:c.900+184_900+185delinsCA XP_011539797.1:n.900+184_900+185delinsCA
XM_011541496.3:c.903+184_903+185delinsCA XP_011539798.1:n.903+184_903+185delinsCA
XM_017001328.2:c.903+184_903+185delinsCA XP_016856817.1:n.903+184_903+185delinsCA
XM_024447198.1:c.534+184_534+185delinsCA XP_024302966.1:n.534+184_534+185delinsCA
XR_002956640.1:n.1647+184_1647+185delinsCA
NM_005957.5:c.780+184_780+185delinsCA MANE Select NP_005948.3:n.780+184_780+185delinsCA
NM_001330358.2:c.903+184_903+185delinsCA NP_001317287.1:n.903+184_903+185delinsCA