Canonical Allele Identifier: CA2643298736

Gene: MTHFR C1orf167

Linked Data

• gnomAD v4: 1-11790146-GGGCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790153_11790156del , CM000663.2:g.11790153_11790156del	GRCh38
NC_000001.10:g.11850210_11850213del , CM000663.1:g.11850210_11850213del	GRCh37
NC_000001.9:g.11772797_11772800del	NCBI36
NG_013351.1:g.20954_20957del , LRG_726:g.20954_20957del

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*530_*533del (MTHFR)	ENSP00000365770.1:n.*530_*533del
ENST00000376590.9:c.*530_*533del (MTHFR) MANE Select	ENSP00000365775.3:n.*530_*533del
ENST00000376592.6:c.*530_*533del (MTHFR)	ENSP00000365777.1:n.*530_*533del
ENST00000423400.7:c.*530_*533del (MTHFR)	ENSP00000398908.3:n.*530_*533del
ENST00000641446.1:c.*960_*963del (MTHFR)	ENSP00000493262.1:n.*960_*963del
ENST00000641747.1:c.*2013_*2016del (MTHFR)	ENSP00000493116.1:n.*2013_*2016del
ENST00000641805.1:n.2836_2839del (MTHFR)
ENST00000376583.7:c.2624_2627del (MTHFR)	ENSP00000365767.3:n.2624_2627del
ENST00000376585.5:c.*530_*533del (MTHFR)	ENSP00000365770.1:n.*530_*533del
ENST00000376590.7:c.*530_*533del (MTHFR)	ENSP00000365775.3:n.*530_*533del
ENST00000376592.5:c.*530_*533del (MTHFR)	ENSP00000365777.1:n.*530_*533del
NM_005957.4:c.*530_*533del , LRG_726t1:c.*530_*533del (MTHFR)	NP_005948.3:n.*530_*533del
XM_005263458.2:c.*530_*533del (MTHFR)	XP_005263515.1:n.*530_*533del
XM_005263460.3:c.*530_*533del (MTHFR)	XP_005263517.1:n.*530_*533del
XM_005263461.3:c.*530_*533del (MTHFR)	XP_005263518.1:n.*530_*533del
XM_005263462.3:c.*530_*533del (MTHFR)	XP_005263519.1:n.*530_*533del
XM_005263463.2:c.*530_*533del (MTHFR)	XP_005263520.1:n.*530_*533del
XM_011541495.1:c.*530_*533del (MTHFR)	XP_011539797.1:n.*530_*533del
XM_011541496.1:c.*390_*393del (MTHFR)	XP_011539798.1:n.*390_*393del
NM_001330358.1:c.*530_*533del (MTHFR)	NP_001317287.1:n.*530_*533del
XM_005263460.5:c.*530_*533del (MTHFR)	XP_005263517.1:n.*530_*533del
XM_005263462.4:c.*530_*533del (MTHFR)	XP_005263519.1:n.*530_*533del
XM_005263463.4:c.*530_*533del (MTHFR)	XP_005263520.1:n.*530_*533del
XM_011541272.3:c.*707_*710del (C1orf167)	XP_011539574.1:n.*707_*710del
XM_011541276.3:c.*694_*697del (C1orf167)	XP_011539578.1:n.*694_*697del
XM_011541277.3:c.*707_*710del (C1orf167)	XP_011539579.1:n.*707_*710del
XM_011541495.3:c.*530_*533del (MTHFR)	XP_011539797.1:n.*530_*533del
XM_011541496.3:c.*390_*393del (MTHFR)	XP_011539798.1:n.*390_*393del
XM_024446506.1:c.*1110_*1113del (C1orf167)	XP_024302274.1:n.*1110_*1113del
XM_024446507.1:c.*1110_*1113del (C1orf167)	XP_024302275.1:n.*1110_*1113del
XM_024446508.1:c.*1110_*1113del (C1orf167)	XP_024302276.1:n.*1110_*1113del
XM_024446509.1:c.*1110_*1113del (C1orf167)	XP_024302277.1:n.*1110_*1113del
XM_024446512.1:c.*1110_*1113del (C1orf167)	XP_024302280.1:n.*1110_*1113del
XM_024446514.1:c.*1110_*1113del (C1orf167)	XP_024302282.1:n.*1110_*1113del
XM_024446515.1:c.*1110_*1113del (C1orf167)	XP_024302283.1:n.*1110_*1113del
XM_024446517.1:c.*1110_*1113del (C1orf167)	XP_024302285.1:n.*1110_*1113del
XM_024446518.1:c.*1110_*1113del (C1orf167)	XP_024302286.1:n.*1110_*1113del
XM_024447198.1:c.*530_*533del (MTHFR)	XP_024302966.1:n.*530_*533del
NM_005957.5:c.*530_*533del (MTHFR) MANE Select	NP_005948.3:n.*530_*533del
NM_001330358.2:c.*530_*533del (MTHFR)	NP_001317287.1:n.*530_*533del