Canonical Allele Identifier: CA2643299424
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790317A>T , CM000663.2:g.11790317A>T GRCh38
NC_000001.10:g.11850374A>T , CM000663.1:g.11850374A>T GRCh37
NC_000001.9:g.11772961A>T NCBI36
NG_013351.1:g.20787T>A , LRG_726:g.20787T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*363T>A ENSP00000365770.1:n.*363T>A
ENST00000376590.9:c.*363T>A MANE Select ENSP00000365775.3:n.*363T>A
ENST00000376592.6:c.*363T>A ENSP00000365777.1:n.*363T>A
ENST00000423400.7:c.*363T>A ENSP00000398908.3:n.*363T>A
ENST00000641446.1:c.*793T>A ENSP00000493262.1:n.*793T>A
ENST00000641747.1:c.*1846T>A ENSP00000493116.1:n.*1846T>A
ENST00000641805.1:n.2669T>A
ENST00000376583.7:c.2457T>A ENSP00000365767.3:n.2457T>A
ENST00000376585.5:c.*363T>A ENSP00000365770.1:n.*363T>A
ENST00000376590.7:c.*363T>A ENSP00000365775.3:n.*363T>A
ENST00000376592.5:c.*363T>A ENSP00000365777.1:n.*363T>A
NM_005957.4:c.*363T>A , LRG_726t1:c.*363T>A NP_005948.3:n.*363T>A
XM_005263458.2:c.*363T>A XP_005263515.1:n.*363T>A
XM_005263460.3:c.*363T>A XP_005263517.1:n.*363T>A
XM_005263461.3:c.*363T>A XP_005263518.1:n.*363T>A
XM_005263462.3:c.*363T>A XP_005263519.1:n.*363T>A
XM_005263463.2:c.*363T>A XP_005263520.1:n.*363T>A
XM_011541495.1:c.*363T>A XP_011539797.1:n.*363T>A
XM_011541496.1:c.*223T>A XP_011539798.1:n.*223T>A
NM_001330358.1:c.*363T>A NP_001317287.1:n.*363T>A
XM_005263460.5:c.*363T>A XP_005263517.1:n.*363T>A
XM_005263462.4:c.*363T>A XP_005263519.1:n.*363T>A
XM_005263463.4:c.*363T>A XP_005263520.1:n.*363T>A
XM_011541495.3:c.*363T>A XP_011539797.1:n.*363T>A
XM_011541496.3:c.*223T>A XP_011539798.1:n.*223T>A
XM_024447198.1:c.*363T>A XP_024302966.1:n.*363T>A
NM_005957.5:c.*363T>A MANE Select NP_005948.3:n.*363T>A
NM_001330358.2:c.*363T>A NP_001317287.1:n.*363T>A