Canonical Allele Identifier: CA1153798919
Gene: MTHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11794429_11794453delinsTCAGCTCCTCCCCCCACATCTTCAG , CM000663.2:g.11794429_11794453delinsTCAGCTCCTCCCCCCACATCTTCAG GRCh38
NC_000001.10:g.11854486_11854510delinsTCAGCTCCTCCCCCCACATCTTCAG , CM000663.1:g.11854486_11854510delinsTCAGCTCCTCCCCCCACATCTTCAG GRCh37
NC_000001.9:g.11777073_11777097delinsTCAGCTCCTCCCCCCACATCTTCAG NCBI36
NG_013351.1:g.16651_16675delinsCTGAAGATGTGGGGGGAGGAGCTGA , LRG_726:g.16651_16675delinsCTGAAGATGTGGGGGGAGGAGCTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000365770.1:p.Leu459=
ENST00000376590.9:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA MANE Select ENSP00000365775.3:p.Leu418=
ENST00000376592.6:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000365777.1:p.Leu418=
ENST00000423400.7:c.1372_1396delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000398908.3:p.Leu458=
ENST00000641407.1:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000493098.1:p.Leu418=
ENST00000641446.1:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000493262.1:p.Leu418=
ENST00000641747.1:c.*764_*788delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000493116.1:n.*764_*788delinsCTGAAGATGTGGGGGGAGGAGCTGA
ENST00000641759.1:n.1621_1645delinsCTGAAGATGTGGGGGGAGGAGCTGA
ENST00000641805.1:n.1769_1793delinsCTGAAGATGTGGGGGGAGGAGCTGA
ENST00000641820.1:c.517_541delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000492937.1:p.Leu173=
ENST00000376583.7:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000365767.3:p.Leu459=
ENST00000376585.5:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000365770.1:p.Leu459=
ENST00000376590.7:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000365775.3:p.Leu418=
ENST00000376592.5:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA ENSP00000365777.1:p.Leu418=
NM_005957.4:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA , LRG_726t1:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA NP_005948.3:p.Leu418=
XM_005263458.2:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263515.1:p.Leu459=
XM_005263460.3:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263517.1:p.Leu418=
XM_005263461.3:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263518.1:p.Leu418=
XM_005263462.3:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263519.1:p.Leu418=
XM_005263463.2:c.1006_1030delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263520.1:p.Leu336=
XM_011541495.1:c.1372_1396delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_011539797.1:p.Leu458=
XM_011541496.1:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_011539798.1:p.Leu459=
NM_001330358.1:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA NP_001317287.1:p.Leu459=
XM_005263460.5:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263517.1:p.Leu418=
XM_005263462.4:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263519.1:p.Leu418=
XM_005263463.4:c.1006_1030delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_005263520.1:p.Leu336=
XM_011541495.3:c.1372_1396delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_011539797.1:p.Leu458=
XM_011541496.3:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_011539798.1:p.Leu459=
XM_017001328.2:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_016856817.1:p.Leu459=
XM_024447198.1:c.1006_1030delinsCTGAAGATGTGGGGGGAGGAGCTGA XP_024302966.1:p.Leu336=
XR_002956640.1:n.2353_2377delinsCTGAAGATGTGGGGGGAGGAGCTGA
NM_005957.5:c.1252_1276delinsCTGAAGATGTGGGGGGAGGAGCTGA MANE Select NP_005948.3:p.Leu418=
NM_001330358.2:c.1375_1399delinsCTGAAGATGTGGGGGGAGGAGCTGA NP_001317287.1:p.Leu459=