Canonical Allele Identifier: CA1153789326
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789852C= , CM000663.2:g.11789852C= GRCh38
NC_000001.10:g.11849909C= , CM000663.1:g.11849909C= GRCh37
NC_000001.9:g.11772496C= NCBI36
NG_013351.1:g.21252G= , LRG_726:g.21252G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*828G= (MTHFR) ENSP00000365770.1:n.*828G=
ENST00000376590.9:c.*828G= (MTHFR) MANE Select ENSP00000365775.3:n.*828G=
ENST00000376592.6:c.*828G= (MTHFR) ENSP00000365777.1:n.*828G=
ENST00000641747.1:c.*2311G= (MTHFR) ENSP00000493116.1:n.*2311G=
ENST00000376583.7:c.2922G= (MTHFR) ENSP00000365767.3:n.2922G=
ENST00000376585.5:c.*828G= (MTHFR) ENSP00000365770.1:n.*828G=
ENST00000376590.7:c.*828G= (MTHFR) ENSP00000365775.3:n.*828G=
ENST00000376592.5:c.*828G= (MTHFR) ENSP00000365777.1:n.*828G=
NM_005957.4:c.*828G= , LRG_726t1:c.*828G= (MTHFR) NP_005948.3:n.*828G=
NM_001330358.1:c.*828G= (MTHFR) NP_001317287.1:n.*828G=
XM_011541272.3:c.*406C= (C1orf167) XP_011539574.1:n.*406C=
XM_011541276.3:c.*393C= (C1orf167) XP_011539578.1:n.*393C=
XM_011541277.3:c.*406C= (C1orf167) XP_011539579.1:n.*406C=
XM_024446506.1:c.*809C= (C1orf167) XP_024302274.1:n.*809C=
XM_024446507.1:c.*809C= (C1orf167) XP_024302275.1:n.*809C=
XM_024446508.1:c.*809C= (C1orf167) XP_024302276.1:n.*809C=
XM_024446509.1:c.*809C= (C1orf167) XP_024302277.1:n.*809C=
XM_024446512.1:c.*809C= (C1orf167) XP_024302280.1:n.*809C=
XM_024446514.1:c.*809C= (C1orf167) XP_024302282.1:n.*809C=
XM_024446515.1:c.*809C= (C1orf167) XP_024302283.1:n.*809C=
XM_024446517.1:c.*809C= (C1orf167) XP_024302285.1:n.*809C=
XM_024446518.1:c.*809C= (C1orf167) XP_024302286.1:n.*809C=
NM_005957.5:c.*828G= (MTHFR) MANE Select NP_005948.3:n.*828G=
NM_001330358.2:c.*828G= (MTHFR) NP_001317287.1:n.*828G=