Canonical Allele Identifier: CA338477657
Gene: MTHFR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794360T>A , CM000663.2:g.11794360T>A GRCh38
NC_000001.10:g.11854417T>A , CM000663.1:g.11854417T>A GRCh37
NC_000001.9:g.11777004T>A NCBI36
NG_013351.1:g.16744A>T , LRG_726:g.16744A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1468A>T ENSP00000365770.1:p.Lys490Ter
ENST00000376590.9:c.1345A>T MANE Select ENSP00000365775.3:p.Lys449Ter
ENST00000376592.6:c.1345A>T ENSP00000365777.1:p.Lys449Ter
ENST00000423400.7:c.1465A>T ENSP00000398908.3:p.Lys489Ter
ENST00000641407.1:c.1345A>T ENSP00000493098.1:p.Lys449Ter
ENST00000641446.1:c.1345A>T ENSP00000493262.1:p.Lys449Ter
ENST00000641747.1:c.*857A>T ENSP00000493116.1:n.*857A>T
ENST00000641759.1:n.1714A>T
ENST00000641805.1:n.1862A>T
ENST00000641820.1:c.610A>T ENSP00000492937.1:p.Lys204Ter
ENST00000376583.7:c.1468A>T ENSP00000365767.3:p.Lys490Ter
ENST00000376585.5:c.1468A>T ENSP00000365770.1:p.Lys490Ter
ENST00000376590.7:c.1345A>T ENSP00000365775.3:p.Lys449Ter
ENST00000376592.5:c.1345A>T ENSP00000365777.1:p.Lys449Ter
NM_005957.4:c.1345A>T , LRG_726t1:c.1345A>T NP_005948.3:p.Lys449Ter
XM_005263458.2:c.1468A>T XP_005263515.1:p.Lys490Ter
XM_005263460.3:c.1345A>T XP_005263517.1:p.Lys449Ter
XM_005263461.3:c.1345A>T XP_005263518.1:p.Lys449Ter
XM_005263462.3:c.1345A>T XP_005263519.1:p.Lys449Ter
XM_005263463.2:c.1099A>T XP_005263520.1:p.Lys367Ter
XM_011541495.1:c.1465A>T XP_011539797.1:p.Lys489Ter
XM_011541496.1:c.1468A>T XP_011539798.1:p.Lys490Ter
NM_001330358.1:c.1468A>T NP_001317287.1:p.Lys490Ter
XM_005263460.5:c.1345A>T XP_005263517.1:p.Lys449Ter
XM_005263462.4:c.1345A>T XP_005263519.1:p.Lys449Ter
XM_005263463.4:c.1099A>T XP_005263520.1:p.Lys367Ter
XM_011541495.3:c.1465A>T XP_011539797.1:p.Lys489Ter
XM_011541496.3:c.1468A>T XP_011539798.1:p.Lys490Ter
XM_017001328.2:c.1468A>T XP_016856817.1:p.Lys490Ter
XM_024447198.1:c.1099A>T XP_024302966.1:p.Lys367Ter
XR_002956640.1:n.2446A>T
NM_005957.5:c.1345A>T MANE Select NP_005948.3:p.Lys449Ter
NM_001330358.2:c.1468A>T NP_001317287.1:p.Lys490Ter