Canonical Allele Identifier: CA338473983
Community Standard Title: NM_005957.5(MTHFR):c.1786G>T (p.Gly596Ter)
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790865C>A , CM000663.2:g.11790865C>A GRCh38
NC_000001.10:g.11850922C>A , CM000663.1:g.11850922C>A GRCh37
NC_000001.9:g.11773509C>A NCBI36
NG_013351.1:g.20239G>T , LRG_726:g.20239G>T

Transcript Alleles

HGVS Amino-acid Change
NM_005957.5:c.1786G>T MANE Select NP_005948.3:p.Gly596Ter
ENST00000376590.9:c.1786G>T MANE Select ENSP00000365775.3:p.Gly596Ter
NM_001330358.1:c.1909G>T NP_001317287.1:p.Gly637Ter
NM_001330358.2:c.1909G>T NP_001317287.1:p.Gly637Ter
NM_005957.4:c.1786G>T , LRG_726t1:c.1786G>T NP_005948.3:p.Gly596Ter
ENST00000376583.7:c.1909G>T ENSP00000365767.3:p.Gly637Ter
ENST00000376585.5:c.1909G>T ENSP00000365770.1:p.Gly637Ter
ENST00000376585.6:c.1909G>T ENSP00000365770.1:p.Gly637Ter
ENST00000376590.7:c.1786G>T ENSP00000365775.3:p.Gly596Ter
ENST00000376592.5:c.1786G>T ENSP00000365777.1:p.Gly596Ter
ENST00000376592.6:c.1786G>T ENSP00000365777.1:p.Gly596Ter
ENST00000423400.7:c.1906G>T ENSP00000398908.3:p.Gly636Ter
ENST00000641407.1:c.1753-149G>T ENSP00000493098.1:n.1753-149G>T
ENST00000641446.1:c.*245G>T ENSP00000493262.1:n.*245G>T
ENST00000641747.1:c.*1298G>T ENSP00000493116.1:n.*1298G>T
ENST00000641759.1:n.2155G>T
ENST00000641805.1:n.2270-149G>T
ENST00000641820.1:c.1051G>T ENSP00000492937.1:p.Gly351Ter
XM_005263458.2:c.1909G>T XP_005263515.1:p.Gly637Ter
XM_005263460.3:c.1786G>T XP_005263517.1:p.Gly596Ter
XM_005263460.5:c.1786G>T XP_005263517.1:p.Gly596Ter
XM_005263461.3:c.1786G>T XP_005263518.1:p.Gly596Ter
XM_005263462.3:c.1786G>T XP_005263519.1:p.Gly596Ter
XM_005263462.4:c.1786G>T XP_005263519.1:p.Gly596Ter
XM_005263463.2:c.1540G>T XP_005263520.1:p.Gly514Ter
XM_005263463.4:c.1540G>T XP_005263520.1:p.Gly514Ter
XM_011541495.1:c.1906G>T XP_011539797.1:p.Gly636Ter
XM_011541495.3:c.1906G>T XP_011539797.1:p.Gly636Ter
XM_011541496.1:c.1876-149G>T XP_011539798.1:n.1876-149G>T
XM_011541496.3:c.1876-149G>T XP_011539798.1:n.1876-149G>T
XM_017001328.2:c.1876-117G>T XP_016856817.1:n.1876-117G>T
XM_024447198.1:c.1540G>T XP_024302966.1:p.Gly514Ter
XR_002956640.1:n.2854-149G>T