Canonical Allele Identifier: CA338422098
Community Standard Title: NM_005957.5(MTHFR):c.494G>A (p.Trp165Ter)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11800304C>T , CM000663.2:g.11800304C>T GRCh38
NC_000001.10:g.11860361C>T , CM000663.1:g.11860361C>T GRCh37
NC_000001.9:g.11782948C>T NCBI36
NG_013351.1:g.10800G>A , LRG_726:g.10800G>A

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.494G>A MANE Select NP_005948.3:p.Trp165Ter
ENST00000376590.9:c.494G>A MANE Select ENSP00000365775.3:p.Trp165Ter
NM_001330358.1:c.617G>A NP_001317287.1:p.Trp206Ter
NM_001330358.2:c.617G>A NP_001317287.1:p.Trp206Ter
NM_005957.4:c.494G>A , LRG_726t1:c.494G>A NP_005948.3:p.Trp165Ter
ENST00000376486.3:c.494G>A ENSP00000365669.3:p.Trp165Ter
ENST00000376583.7:c.617G>A ENSP00000365767.3:p.Trp206Ter
ENST00000376585.5:c.617G>A ENSP00000365770.1:p.Trp206Ter
ENST00000376585.6:c.617G>A ENSP00000365770.1:p.Trp206Ter
ENST00000376590.7:c.494G>A ENSP00000365775.3:p.Trp165Ter
ENST00000376592.5:c.494G>A ENSP00000365777.1:p.Trp165Ter
ENST00000376592.6:c.494G>A ENSP00000365777.1:p.Trp165Ter
ENST00000423400.7:c.614G>A ENSP00000398908.3:p.Trp205Ter
ENST00000641407.1:c.494G>A ENSP00000493098.1:p.Trp165Ter
ENST00000641437.1:n.1464G>A
ENST00000641446.1:c.494G>A ENSP00000493262.1:p.Trp165Ter
ENST00000641721.1:n.551G>A
ENST00000641747.1:c.*6G>A ENSP00000493116.1:n.*6G>A
ENST00000641759.1:n.629G>A
ENST00000641805.1:n.777G>A
ENST00000641909.1:n.1742G>A
XM_005263458.2:c.617G>A XP_005263515.1:p.Trp206Ter
XM_005263460.3:c.494G>A XP_005263517.1:p.Trp165Ter
XM_005263460.5:c.494G>A XP_005263517.1:p.Trp165Ter
XM_005263461.3:c.494G>A XP_005263518.1:p.Trp165Ter
XM_005263462.3:c.494G>A XP_005263519.1:p.Trp165Ter
XM_005263462.4:c.494G>A XP_005263519.1:p.Trp165Ter
XM_005263463.2:c.248G>A XP_005263520.1:p.Trp83Ter
XM_005263463.4:c.248G>A XP_005263520.1:p.Trp83Ter
XM_011541495.1:c.614G>A XP_011539797.1:p.Trp205Ter
XM_011541495.3:c.614G>A XP_011539797.1:p.Trp205Ter
XM_011541496.1:c.617G>A XP_011539798.1:p.Trp206Ter
XM_011541496.3:c.617G>A XP_011539798.1:p.Trp206Ter
XM_017001328.2:c.617G>A XP_016856817.1:p.Trp206Ter
XM_024447198.1:c.248G>A XP_024302966.1:p.Trp83Ter
XR_002956640.1:n.1361G>A