Canonical Allele Identifier: CA1153789393
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789897_11789900delinsAGAT , CM000663.2:g.11789897_11789900delinsAGAT GRCh38
NC_000001.10:g.11849954_11849957delinsAGAT , CM000663.1:g.11849954_11849957delinsAGAT GRCh37
NC_000001.9:g.11772541_11772544delinsAGAT NCBI36
NG_013351.1:g.21204_21207delinsATCT , LRG_726:g.21204_21207delinsATCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*780_*783delinsATCT (MTHFR) ENSP00000365770.1:n.*780_*783delinsATCT
ENST00000376590.9:c.*780_*783delinsATCT (MTHFR) MANE Select ENSP00000365775.3:n.*780_*783delinsATCT
ENST00000376592.6:c.*780_*783delinsATCT (MTHFR) ENSP00000365777.1:n.*780_*783delinsATCT
ENST00000641747.1:c.*2263_*2266delinsATCT (MTHFR) ENSP00000493116.1:n.*2263_*2266delinsATCT
ENST00000376583.7:c.2874_2877delinsATCT (MTHFR) ENSP00000365767.3:n.2874_2877delinsATCT
ENST00000376585.5:c.*780_*783delinsATCT (MTHFR) ENSP00000365770.1:n.*780_*783delinsATCT
ENST00000376590.7:c.*780_*783delinsATCT (MTHFR) ENSP00000365775.3:n.*780_*783delinsATCT
ENST00000376592.5:c.*780_*783delinsATCT (MTHFR) ENSP00000365777.1:n.*780_*783delinsATCT
NM_005957.4:c.*780_*783delinsATCT , LRG_726t1:c.*780_*783delinsATCT (MTHFR) NP_005948.3:n.*780_*783delinsATCT
XM_005263458.2:c.*780_*783delinsATCT (MTHFR) XP_005263515.1:n.*780_*783delinsATCT
XM_005263460.3:c.*780_*783delinsATCT (MTHFR) XP_005263517.1:n.*780_*783delinsATCT
XM_005263461.3:c.*780_*783delinsATCT (MTHFR) XP_005263518.1:n.*780_*783delinsATCT
XM_005263462.3:c.*780_*783delinsATCT (MTHFR) XP_005263519.1:n.*780_*783delinsATCT
XM_005263463.2:c.*780_*783delinsATCT (MTHFR) XP_005263520.1:n.*780_*783delinsATCT
XM_011541495.1:c.*780_*783delinsATCT (MTHFR) XP_011539797.1:n.*780_*783delinsATCT
XM_011541496.1:c.*640_*643delinsATCT (MTHFR) XP_011539798.1:n.*640_*643delinsATCT
NM_001330358.1:c.*780_*783delinsATCT (MTHFR) NP_001317287.1:n.*780_*783delinsATCT
XM_011541272.3:c.*451_*454delinsAGAT (C1orf167) XP_011539574.1:n.*451_*454delinsAGAT
XM_011541276.3:c.*438_*441delinsAGAT (C1orf167) XP_011539578.1:n.*438_*441delinsAGAT
XM_011541277.3:c.*451_*454delinsAGAT (C1orf167) XP_011539579.1:n.*451_*454delinsAGAT
XM_024446506.1:c.*854_*857delinsAGAT (C1orf167) XP_024302274.1:n.*854_*857delinsAGAT
XM_024446507.1:c.*854_*857delinsAGAT (C1orf167) XP_024302275.1:n.*854_*857delinsAGAT
XM_024446508.1:c.*854_*857delinsAGAT (C1orf167) XP_024302276.1:n.*854_*857delinsAGAT
XM_024446509.1:c.*854_*857delinsAGAT (C1orf167) XP_024302277.1:n.*854_*857delinsAGAT
XM_024446512.1:c.*854_*857delinsAGAT (C1orf167) XP_024302280.1:n.*854_*857delinsAGAT
XM_024446514.1:c.*854_*857delinsAGAT (C1orf167) XP_024302282.1:n.*854_*857delinsAGAT
XM_024446515.1:c.*854_*857delinsAGAT (C1orf167) XP_024302283.1:n.*854_*857delinsAGAT
XM_024446517.1:c.*854_*857delinsAGAT (C1orf167) XP_024302285.1:n.*854_*857delinsAGAT
XM_024446518.1:c.*854_*857delinsAGAT (C1orf167) XP_024302286.1:n.*854_*857delinsAGAT
NM_005957.5:c.*780_*783delinsATCT (MTHFR) MANE Select NP_005948.3:n.*780_*783delinsATCT
NM_001330358.2:c.*780_*783delinsATCT (MTHFR) NP_001317287.1:n.*780_*783delinsATCT