Canonical Allele Identifier: CA1153789341
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789863C= , CM000663.2:g.11789863C= GRCh38
NC_000001.10:g.11849920C= , CM000663.1:g.11849920C= GRCh37
NC_000001.9:g.11772507C= NCBI36
NG_013351.1:g.21241G= , LRG_726:g.21241G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*817G= (MTHFR) ENSP00000365770.1:n.*817G=
ENST00000376590.9:c.*817G= (MTHFR) MANE Select ENSP00000365775.3:n.*817G=
ENST00000376592.6:c.*817G= (MTHFR) ENSP00000365777.1:n.*817G=
ENST00000641747.1:c.*2300G= (MTHFR) ENSP00000493116.1:n.*2300G=
ENST00000376583.7:c.2911G= (MTHFR) ENSP00000365767.3:n.2911G=
ENST00000376585.5:c.*817G= (MTHFR) ENSP00000365770.1:n.*817G=
ENST00000376590.7:c.*817G= (MTHFR) ENSP00000365775.3:n.*817G=
ENST00000376592.5:c.*817G= (MTHFR) ENSP00000365777.1:n.*817G=
NM_005957.4:c.*817G= , LRG_726t1:c.*817G= (MTHFR) NP_005948.3:n.*817G=
NM_001330358.1:c.*817G= (MTHFR) NP_001317287.1:n.*817G=
XM_011541272.3:c.*417C= (C1orf167) XP_011539574.1:n.*417C=
XM_011541276.3:c.*404C= (C1orf167) XP_011539578.1:n.*404C=
XM_011541277.3:c.*417C= (C1orf167) XP_011539579.1:n.*417C=
XM_024446506.1:c.*820C= (C1orf167) XP_024302274.1:n.*820C=
XM_024446507.1:c.*820C= (C1orf167) XP_024302275.1:n.*820C=
XM_024446508.1:c.*820C= (C1orf167) XP_024302276.1:n.*820C=
XM_024446509.1:c.*820C= (C1orf167) XP_024302277.1:n.*820C=
XM_024446512.1:c.*820C= (C1orf167) XP_024302280.1:n.*820C=
XM_024446514.1:c.*820C= (C1orf167) XP_024302282.1:n.*820C=
XM_024446515.1:c.*820C= (C1orf167) XP_024302283.1:n.*820C=
XM_024446517.1:c.*820C= (C1orf167) XP_024302285.1:n.*820C=
XM_024446518.1:c.*820C= (C1orf167) XP_024302286.1:n.*820C=
NM_005957.5:c.*817G= (MTHFR) MANE Select NP_005948.3:n.*817G=
NM_001330358.2:c.*817G= (MTHFR) NP_001317287.1:n.*817G=