Canonical Allele Identifier: CA338480600
Gene: MTHFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11796238A>C , CM000663.2:g.11796238A>C GRCh38
NC_000001.10:g.11856295A>C , CM000663.1:g.11856295A>C GRCh37
NC_000001.9:g.11778882A>C NCBI36
NG_013351.1:g.14866T>G , LRG_726:g.14866T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.871T>G ENSP00000365770.1:p.Cys291Gly
ENST00000376590.9:c.748T>G MANE Select ENSP00000365775.3:p.Cys250Gly
ENST00000376592.6:c.748T>G ENSP00000365777.1:p.Cys250Gly
ENST00000423400.7:c.868T>G ENSP00000398908.3:p.Cys290Gly
ENST00000641407.1:c.748T>G ENSP00000493098.1:p.Cys250Gly
ENST00000641446.1:c.748T>G ENSP00000493262.1:p.Cys250Gly
ENST00000641721.1:n.644-890T>G
ENST00000641747.1:c.*260T>G ENSP00000493116.1:n.*260T>G
ENST00000641759.1:n.883T>G
ENST00000641805.1:n.1031T>G
ENST00000641820.1:c.13T>G ENSP00000492937.1:p.Cys5Gly
ENST00000376583.7:c.871T>G ENSP00000365767.3:p.Cys291Gly
ENST00000376585.5:c.871T>G ENSP00000365770.1:p.Cys291Gly
ENST00000376590.7:c.748T>G ENSP00000365775.3:p.Cys250Gly
ENST00000376592.5:c.748T>G ENSP00000365777.1:p.Cys250Gly
NM_005957.4:c.748T>G , LRG_726t1:c.748T>G NP_005948.3:p.Cys250Gly
XM_005263458.2:c.871T>G XP_005263515.1:p.Cys291Gly
XM_005263460.3:c.748T>G XP_005263517.1:p.Cys250Gly
XM_005263461.3:c.748T>G XP_005263518.1:p.Cys250Gly
XM_005263462.3:c.748T>G XP_005263519.1:p.Cys250Gly
XM_005263463.2:c.502T>G XP_005263520.1:p.Cys168Gly
XM_011541495.1:c.868T>G XP_011539797.1:p.Cys290Gly
XM_011541496.1:c.871T>G XP_011539798.1:p.Cys291Gly
NM_001330358.1:c.871T>G NP_001317287.1:p.Cys291Gly
XM_005263460.5:c.748T>G XP_005263517.1:p.Cys250Gly
XM_005263462.4:c.748T>G XP_005263519.1:p.Cys250Gly
XM_005263463.4:c.502T>G XP_005263520.1:p.Cys168Gly
XM_011541495.3:c.868T>G XP_011539797.1:p.Cys290Gly
XM_011541496.3:c.871T>G XP_011539798.1:p.Cys291Gly
XM_017001328.2:c.871T>G XP_016856817.1:p.Cys291Gly
XM_024447198.1:c.502T>G XP_024302966.1:p.Cys168Gly
XR_002956640.1:n.1615T>G
NM_005957.5:c.748T>G MANE Select NP_005948.3:p.Cys250Gly
NM_001330358.2:c.871T>G NP_001317287.1:p.Cys291Gly