Canonical Allele Identifier: CA338474034
Gene: MTHFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790874C>G , CM000663.2:g.11790874C>G GRCh38
NC_000001.10:g.11850931C>G , CM000663.1:g.11850931C>G GRCh37
NC_000001.9:g.11773518C>G NCBI36
NG_013351.1:g.20230G>C , LRG_726:g.20230G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.1900G>C ENSP00000365770.1:p.Glu634Gln
ENST00000376590.9:c.1777G>C MANE Select ENSP00000365775.3:p.Glu593Gln
ENST00000376592.6:c.1777G>C ENSP00000365777.1:p.Glu593Gln
ENST00000423400.7:c.1897G>C ENSP00000398908.3:p.Glu633Gln
ENST00000641407.1:c.1753-158G>C ENSP00000493098.1:n.1753-158G>C
ENST00000641446.1:c.*236G>C ENSP00000493262.1:n.*236G>C
ENST00000641747.1:c.*1289G>C ENSP00000493116.1:n.*1289G>C
ENST00000641759.1:n.2146G>C
ENST00000641805.1:n.2270-158G>C
ENST00000641820.1:c.1042G>C ENSP00000492937.1:p.Glu348Gln
ENST00000376583.7:c.1900G>C ENSP00000365767.3:p.Glu634Gln
ENST00000376585.5:c.1900G>C ENSP00000365770.1:p.Glu634Gln
ENST00000376590.7:c.1777G>C ENSP00000365775.3:p.Glu593Gln
ENST00000376592.5:c.1777G>C ENSP00000365777.1:p.Glu593Gln
NM_005957.4:c.1777G>C , LRG_726t1:c.1777G>C NP_005948.3:p.Glu593Gln
XM_005263458.2:c.1900G>C XP_005263515.1:p.Glu634Gln
XM_005263460.3:c.1777G>C XP_005263517.1:p.Glu593Gln
XM_005263461.3:c.1777G>C XP_005263518.1:p.Glu593Gln
XM_005263462.3:c.1777G>C XP_005263519.1:p.Glu593Gln
XM_005263463.2:c.1531G>C XP_005263520.1:p.Glu511Gln
XM_011541495.1:c.1897G>C XP_011539797.1:p.Glu633Gln
XM_011541496.1:c.1876-158G>C XP_011539798.1:n.1876-158G>C
NM_001330358.1:c.1900G>C NP_001317287.1:p.Glu634Gln
XM_005263460.5:c.1777G>C XP_005263517.1:p.Glu593Gln
XM_005263462.4:c.1777G>C XP_005263519.1:p.Glu593Gln
XM_005263463.4:c.1531G>C XP_005263520.1:p.Glu511Gln
XM_011541495.3:c.1897G>C XP_011539797.1:p.Glu633Gln
XM_011541496.3:c.1876-158G>C XP_011539798.1:n.1876-158G>C
XM_017001328.2:c.1876-126G>C XP_016856817.1:n.1876-126G>C
XM_024447198.1:c.1531G>C XP_024302966.1:p.Glu511Gln
XR_002956640.1:n.2854-158G>C
NM_005957.5:c.1777G>C MANE Select NP_005948.3:p.Glu593Gln
NM_001330358.2:c.1900G>C NP_001317287.1:p.Glu634Gln