Canonical Allele Identifier: CA1153789184
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789747C= , CM000663.2:g.11789747C= GRCh38
NC_000001.10:g.11849804C= , CM000663.1:g.11849804C= GRCh37
NC_000001.9:g.11772391C= NCBI36
NG_013351.1:g.21357G= , LRG_726:g.21357G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*933G= (MTHFR) ENSP00000365770.1:n.*933G=
ENST00000376590.9:c.*933G= (MTHFR) MANE Select ENSP00000365775.3:n.*933G=
ENST00000376592.6:c.*933G= (MTHFR) ENSP00000365777.1:n.*933G=
ENST00000376583.7:c.3027G= (MTHFR) ENSP00000365767.3:n.3027G=
ENST00000376585.5:c.*933G= (MTHFR) ENSP00000365770.1:n.*933G=
ENST00000376590.7:c.*933G= (MTHFR) ENSP00000365775.3:n.*933G=
ENST00000376592.5:c.*933G= (MTHFR) ENSP00000365777.1:n.*933G=
NM_005957.4:c.*933G= , LRG_726t1:c.*933G= (MTHFR) NP_005948.3:n.*933G=
NM_001330358.1:c.*933G= (MTHFR) NP_001317287.1:n.*933G=
XM_011541272.3:c.*301C= (C1orf167) XP_011539574.1:n.*301C=
XM_011541276.3:c.*288C= (C1orf167) XP_011539578.1:n.*288C=
XM_011541277.3:c.*301C= (C1orf167) XP_011539579.1:n.*301C=
XM_024446506.1:c.*704C= (C1orf167) XP_024302274.1:n.*704C=
XM_024446507.1:c.*704C= (C1orf167) XP_024302275.1:n.*704C=
XM_024446508.1:c.*704C= (C1orf167) XP_024302276.1:n.*704C=
XM_024446509.1:c.*704C= (C1orf167) XP_024302277.1:n.*704C=
XM_024446512.1:c.*704C= (C1orf167) XP_024302280.1:n.*704C=
XM_024446514.1:c.*704C= (C1orf167) XP_024302282.1:n.*704C=
XM_024446515.1:c.*704C= (C1orf167) XP_024302283.1:n.*704C=
XM_024446517.1:c.*704C= (C1orf167) XP_024302285.1:n.*704C=
XM_024446518.1:c.*704C= (C1orf167) XP_024302286.1:n.*704C=
NM_005957.5:c.*933G= (MTHFR) MANE Select NP_005948.3:n.*933G=
NM_001330358.2:c.*933G= (MTHFR) NP_001317287.1:n.*933G=