Canonical Allele Identifier: CA521192358
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs1391748753

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790254del , CM000663.2:g.11790254del GRCh38
NC_000001.10:g.11850311del , CM000663.1:g.11850311del GRCh37
NC_000001.9:g.11772898del NCBI36
NG_013351.1:g.20850del , LRG_726:g.20850del

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.*426del ENSP00000365770.1:n.*426del
ENST00000376590.9:c.*426del MANE Select ENSP00000365775.3:n.*426del
ENST00000376592.6:c.*426del ENSP00000365777.1:n.*426del
ENST00000423400.7:c.*426del ENSP00000398908.3:n.*426del
ENST00000641446.1:c.*856del ENSP00000493262.1:n.*856del
ENST00000641747.1:c.*1909del ENSP00000493116.1:n.*1909del
ENST00000641805.1:n.2732del
ENST00000376583.7:c.2520del ENSP00000365767.3:n.2520del
ENST00000376585.5:c.*426del ENSP00000365770.1:n.*426del
ENST00000376590.7:c.*426del ENSP00000365775.3:n.*426del
ENST00000376592.5:c.*426del ENSP00000365777.1:n.*426del
NM_005957.4:c.*426del , LRG_726t1:c.*426del NP_005948.3:n.*426del
XM_005263458.2:c.*426del XP_005263515.1:n.*426del
XM_005263460.3:c.*426del XP_005263517.1:n.*426del
XM_005263461.3:c.*426del XP_005263518.1:n.*426del
XM_005263462.3:c.*426del XP_005263519.1:n.*426del
XM_005263463.2:c.*426del XP_005263520.1:n.*426del
XM_011541495.1:c.*426del XP_011539797.1:n.*426del
XM_011541496.1:c.*286del XP_011539798.1:n.*286del
NM_001330358.1:c.*426del NP_001317287.1:n.*426del
XM_005263460.5:c.*426del XP_005263517.1:n.*426del
XM_005263462.4:c.*426del XP_005263519.1:n.*426del
XM_005263463.4:c.*426del XP_005263520.1:n.*426del
XM_011541495.3:c.*426del XP_011539797.1:n.*426del
XM_011541496.3:c.*286del XP_011539798.1:n.*286del
XM_024447198.1:c.*426del XP_024302966.1:n.*426del
NM_005957.5:c.*426del MANE Select NP_005948.3:n.*426del
NM_001330358.2:c.*426del NP_001317287.1:n.*426del