Canonical Allele Identifier: CA1153809140
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11802805_11802808delinsCCCA , CM000663.2:g.11802805_11802808delinsCCCA GRCh38
NC_000001.10:g.11862862_11862865delinsCCCA , CM000663.1:g.11862862_11862865delinsCCCA GRCh37
NC_000001.9:g.11785449_11785452delinsCCCA NCBI36
NG_008766.1:g.1656_1659delinsCCCA
NG_013351.1:g.8296_8299delinsTGGG , LRG_726:g.8296_8299delinsTGGG

Transcript Alleles

HGVS Amino-acid change
ENST00000376486.3:c.236+73_236+76delinsTGGG ENSP00000365669.3:n.236+73_236+76delinsTGGG
ENST00000376585.6:c.359+73_359+76delinsTGGG ENSP00000365770.1:n.359+73_359+76delinsTGGG
ENST00000376590.9:c.236+73_236+76delinsTGGG MANE Select ENSP00000365775.3:n.236+73_236+76delinsTGGG
ENST00000376592.6:c.236+73_236+76delinsTGGG ENSP00000365777.1:n.236+73_236+76delinsTGGG
ENST00000423400.7:c.356+73_356+76delinsTGGG ENSP00000398908.3:n.356+73_356+76delinsTGGG
ENST00000431243.6:n.1017+73_1017+76delinsTGGG
ENST00000641407.1:c.236+73_236+76delinsTGGG ENSP00000493098.1:n.236+73_236+76delinsTGGG
ENST00000641437.1:n.368+73_368+76delinsTGGG
ENST00000641446.1:c.236+73_236+76delinsTGGG ENSP00000493262.1:n.236+73_236+76delinsTGGG
ENST00000641721.1:n.293+73_293+76delinsTGGG
ENST00000641747.1:c.236+73_236+76delinsTGGG ENSP00000493116.1:n.236+73_236+76delinsTGGG
ENST00000641759.1:n.371+73_371+76delinsTGGG
ENST00000641805.1:n.519+73_519+76delinsTGGG
ENST00000641909.1:n.646+73_646+76delinsTGGG
ENST00000642002.1:n.465+73_465+76delinsTGGG
ENST00000376583.7:c.359+73_359+76delinsTGGG ENSP00000365767.3:n.359+73_359+76delinsTGGG
ENST00000376585.5:c.359+73_359+76delinsTGGG ENSP00000365770.1:n.359+73_359+76delinsTGGG
ENST00000376590.7:c.236+73_236+76delinsTGGG ENSP00000365775.3:n.236+73_236+76delinsTGGG
ENST00000376592.5:c.236+73_236+76delinsTGGG ENSP00000365777.1:n.236+73_236+76delinsTGGG
ENST00000418034.1:c.236+73_236+76delinsTGGG ENSP00000405082.1:n.236+73_236+76delinsTGGG
NM_005957.4:c.236+73_236+76delinsTGGG , LRG_726t1:c.236+73_236+76delinsTGGG NP_005948.3:n.236+73_236+76delinsTGGG
XM_005263458.2:c.359+73_359+76delinsTGGG XP_005263515.1:n.359+73_359+76delinsTGGG
XM_005263460.3:c.236+73_236+76delinsTGGG XP_005263517.1:n.236+73_236+76delinsTGGG
XM_005263461.3:c.236+73_236+76delinsTGGG XP_005263518.1:n.236+73_236+76delinsTGGG
XM_005263462.3:c.236+73_236+76delinsTGGG XP_005263519.1:n.236+73_236+76delinsTGGG
XM_005263463.2:c.-28+73_-28+76delinsTGGG XP_005263520.1:n.-28+73_-28+76delinsTGGG
XM_011541495.1:c.356+73_356+76delinsTGGG XP_011539797.1:n.356+73_356+76delinsTGGG
XM_011541496.1:c.359+73_359+76delinsTGGG XP_011539798.1:n.359+73_359+76delinsTGGG
NM_001330358.1:c.359+73_359+76delinsTGGG NP_001317287.1:n.359+73_359+76delinsTGGG
XM_005263460.5:c.236+73_236+76delinsTGGG XP_005263517.1:n.236+73_236+76delinsTGGG
XM_005263462.4:c.236+73_236+76delinsTGGG XP_005263519.1:n.236+73_236+76delinsTGGG
XM_005263463.4:c.-28+73_-28+76delinsTGGG XP_005263520.1:n.-28+73_-28+76delinsTGGG
XM_011541495.3:c.356+73_356+76delinsTGGG XP_011539797.1:n.356+73_356+76delinsTGGG
XM_011541496.3:c.359+73_359+76delinsTGGG XP_011539798.1:n.359+73_359+76delinsTGGG
XM_017001328.2:c.359+73_359+76delinsTGGG XP_016856817.1:n.359+73_359+76delinsTGGG
XM_024447198.1:c.-28+73_-28+76delinsTGGG XP_024302966.1:n.-28+73_-28+76delinsTGGG
XR_002956640.1:n.1103+73_1103+76delinsTGGG
NM_005957.5:c.236+73_236+76delinsTGGG MANE Select NP_005948.3:n.236+73_236+76delinsTGGG
NM_001330358.2:c.359+73_359+76delinsTGGG NP_001317287.1:n.359+73_359+76delinsTGGG