Canonical Allele Identifier: CA2643297890

Gene: MTHFR C1orf167

Linked Data

• gnomAD v4: 1-11789752-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789752C>T , CM000663.2:g.11789752C>T	GRCh38
NC_000001.10:g.11849809C>T , CM000663.1:g.11849809C>T	GRCh37
NC_000001.9:g.11772396C>T	NCBI36
NG_013351.1:g.21352G>A , LRG_726:g.21352G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*928G>A (MTHFR)	ENSP00000365770.1:n.*928G>A
ENST00000376590.9:c.*928G>A (MTHFR) MANE Select	ENSP00000365775.3:n.*928G>A
ENST00000376592.6:c.*928G>A (MTHFR)	ENSP00000365777.1:n.*928G>A
ENST00000376583.7:c.3022G>A (MTHFR)	ENSP00000365767.3:n.3022G>A
ENST00000376585.5:c.*928G>A (MTHFR)	ENSP00000365770.1:n.*928G>A
ENST00000376590.7:c.*928G>A (MTHFR)	ENSP00000365775.3:n.*928G>A
ENST00000376592.5:c.*928G>A (MTHFR)	ENSP00000365777.1:n.*928G>A
NM_005957.4:c.*928G>A , LRG_726t1:c.*928G>A (MTHFR)	NP_005948.3:n.*928G>A
NM_001330358.1:c.*928G>A (MTHFR)	NP_001317287.1:n.*928G>A
XM_011541272.3:c.*306C>T (C1orf167)	XP_011539574.1:n.*306C>T
XM_011541276.3:c.*293C>T (C1orf167)	XP_011539578.1:n.*293C>T
XM_011541277.3:c.*306C>T (C1orf167)	XP_011539579.1:n.*306C>T
XM_024446506.1:c.*709C>T (C1orf167)	XP_024302274.1:n.*709C>T
XM_024446507.1:c.*709C>T (C1orf167)	XP_024302275.1:n.*709C>T
XM_024446508.1:c.*709C>T (C1orf167)	XP_024302276.1:n.*709C>T
XM_024446509.1:c.*709C>T (C1orf167)	XP_024302277.1:n.*709C>T
XM_024446512.1:c.*709C>T (C1orf167)	XP_024302280.1:n.*709C>T
XM_024446514.1:c.*709C>T (C1orf167)	XP_024302282.1:n.*709C>T
XM_024446515.1:c.*709C>T (C1orf167)	XP_024302283.1:n.*709C>T
XM_024446517.1:c.*709C>T (C1orf167)	XP_024302285.1:n.*709C>T
XM_024446518.1:c.*709C>T (C1orf167)	XP_024302286.1:n.*709C>T
NM_005957.5:c.*928G>A (MTHFR) MANE Select	NP_005948.3:n.*928G>A
NM_001330358.2:c.*928G>A (MTHFR)	NP_001317287.1:n.*928G>A