Canonical Allele Identifier: CA1153789175

Gene: MTHFR C1orf167

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789743_11789744delinsGC , CM000663.2:g.11789743_11789744delinsGC	GRCh38
NC_000001.10:g.11849800_11849801delinsGC , CM000663.1:g.11849800_11849801delinsGC	GRCh37
NC_000001.9:g.11772387_11772388delinsGC	NCBI36
NG_013351.1:g.21360_21361delinsGC , LRG_726:g.21360_21361delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*936_*937delinsGC (MTHFR)	ENSP00000365770.1:n.*936_*937delinsGC
ENST00000376590.9:c.*936_*937delinsGC (MTHFR) MANE Select	ENSP00000365775.3:n.*936_*937delinsGC
ENST00000376592.6:c.*936_*937delinsGC (MTHFR)	ENSP00000365777.1:n.*936_*937delinsGC
ENST00000376583.7:c.3030_3031delinsGC (MTHFR)	ENSP00000365767.3:n.3030_3031delinsGC
ENST00000376585.5:c.*936_*937delinsGC (MTHFR)	ENSP00000365770.1:n.*936_*937delinsGC
ENST00000376590.7:c.*936_*937delinsGC (MTHFR)	ENSP00000365775.3:n.*936_*937delinsGC
ENST00000376592.5:c.*936_*937delinsGC (MTHFR)	ENSP00000365777.1:n.*936_*937delinsGC
NM_005957.4:c.*936_*937delinsGC , LRG_726t1:c.*936_*937delinsGC (MTHFR)	NP_005948.3:n.*936_*937delinsGC
NM_001330358.1:c.*936_*937delinsGC (MTHFR)	NP_001317287.1:n.*936_*937delinsGC
XM_011541272.3:c.*297_*298delinsGC (C1orf167)	XP_011539574.1:n.*297_*298delinsGC
XM_011541276.3:c.*284_*285delinsGC (C1orf167)	XP_011539578.1:n.*284_*285delinsGC
XM_011541277.3:c.*297_*298delinsGC (C1orf167)	XP_011539579.1:n.*297_*298delinsGC
XM_024446506.1:c.*700_*701delinsGC (C1orf167)	XP_024302274.1:n.*700_*701delinsGC
XM_024446507.1:c.*700_*701delinsGC (C1orf167)	XP_024302275.1:n.*700_*701delinsGC
XM_024446508.1:c.*700_*701delinsGC (C1orf167)	XP_024302276.1:n.*700_*701delinsGC
XM_024446509.1:c.*700_*701delinsGC (C1orf167)	XP_024302277.1:n.*700_*701delinsGC
XM_024446512.1:c.*700_*701delinsGC (C1orf167)	XP_024302280.1:n.*700_*701delinsGC
XM_024446514.1:c.*700_*701delinsGC (C1orf167)	XP_024302282.1:n.*700_*701delinsGC
XM_024446515.1:c.*700_*701delinsGC (C1orf167)	XP_024302283.1:n.*700_*701delinsGC
XM_024446517.1:c.*700_*701delinsGC (C1orf167)	XP_024302285.1:n.*700_*701delinsGC
XM_024446518.1:c.*700_*701delinsGC (C1orf167)	XP_024302286.1:n.*700_*701delinsGC
NM_005957.5:c.*936_*937delinsGC (MTHFR) MANE Select	NP_005948.3:n.*936_*937delinsGC
NM_001330358.2:c.*936_*937delinsGC (MTHFR)	NP_001317287.1:n.*936_*937delinsGC