Canonical Allele Identifier: CA2643298491

Gene: MTHFR C1orf167

Linked Data

• gnomAD v4: 1-11790023-G-GCCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790025_11790028dup , CM000663.2:g.11790025_11790028dup	GRCh38
NC_000001.10:g.11850082_11850085dup , CM000663.1:g.11850082_11850085dup	GRCh37
NC_000001.9:g.11772669_11772672dup	NCBI36
NG_013351.1:g.21077_21080dup , LRG_726:g.21077_21080dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*653_*656dup (MTHFR)	ENSP00000365770.1:n.*653_*656dup
ENST00000376590.9:c.*653_*656dup (MTHFR) MANE Select	ENSP00000365775.3:n.*653_*656dup
ENST00000376592.6:c.*653_*656dup (MTHFR)	ENSP00000365777.1:n.*653_*656dup
ENST00000641747.1:c.*2136_*2139dup (MTHFR)	ENSP00000493116.1:n.*2136_*2139dup
ENST00000376583.7:c.2747_2750dup (MTHFR)	ENSP00000365767.3:n.2747_2750dup
ENST00000376585.5:c.*653_*656dup (MTHFR)	ENSP00000365770.1:n.*653_*656dup
ENST00000376590.7:c.*653_*656dup (MTHFR)	ENSP00000365775.3:n.*653_*656dup
ENST00000376592.5:c.*653_*656dup (MTHFR)	ENSP00000365777.1:n.*653_*656dup
NM_005957.4:c.*653_*656dup , LRG_726t1:c.*653_*656dup (MTHFR)	NP_005948.3:n.*653_*656dup
XM_005263458.2:c.*653_*656dup (MTHFR)	XP_005263515.1:n.*653_*656dup
XM_005263460.3:c.*653_*656dup (MTHFR)	XP_005263517.1:n.*653_*656dup
XM_005263461.3:c.*653_*656dup (MTHFR)	XP_005263518.1:n.*653_*656dup
XM_005263462.3:c.*653_*656dup (MTHFR)	XP_005263519.1:n.*653_*656dup
XM_005263463.2:c.*653_*656dup (MTHFR)	XP_005263520.1:n.*653_*656dup
XM_011541495.1:c.*653_*656dup (MTHFR)	XP_011539797.1:n.*653_*656dup
XM_011541496.1:c.*513_*516dup (MTHFR)	XP_011539798.1:n.*513_*516dup
NM_001330358.1:c.*653_*656dup (MTHFR)	NP_001317287.1:n.*653_*656dup
XM_005263460.5:c.*653_*656dup (MTHFR)	XP_005263517.1:n.*653_*656dup
XM_005263462.4:c.*653_*656dup (MTHFR)	XP_005263519.1:n.*653_*656dup
XM_005263463.4:c.*653_*656dup (MTHFR)	XP_005263520.1:n.*653_*656dup
XM_011541272.3:c.*579_*582dup (C1orf167)	XP_011539574.1:n.*579_*582dup
XM_011541276.3:c.*566_*569dup (C1orf167)	XP_011539578.1:n.*566_*569dup
XM_011541277.3:c.*579_*582dup (C1orf167)	XP_011539579.1:n.*579_*582dup
XM_011541495.3:c.*653_*656dup (MTHFR)	XP_011539797.1:n.*653_*656dup
XM_011541496.3:c.*513_*516dup (MTHFR)	XP_011539798.1:n.*513_*516dup
XM_024446506.1:c.*982_*985dup (C1orf167)	XP_024302274.1:n.*982_*985dup
XM_024446507.1:c.*982_*985dup (C1orf167)	XP_024302275.1:n.*982_*985dup
XM_024446508.1:c.*982_*985dup (C1orf167)	XP_024302276.1:n.*982_*985dup
XM_024446509.1:c.*982_*985dup (C1orf167)	XP_024302277.1:n.*982_*985dup
XM_024446512.1:c.*982_*985dup (C1orf167)	XP_024302280.1:n.*982_*985dup
XM_024446514.1:c.*982_*985dup (C1orf167)	XP_024302282.1:n.*982_*985dup
XM_024446515.1:c.*982_*985dup (C1orf167)	XP_024302283.1:n.*982_*985dup
XM_024446517.1:c.*982_*985dup (C1orf167)	XP_024302285.1:n.*982_*985dup
XM_024446518.1:c.*982_*985dup (C1orf167)	XP_024302286.1:n.*982_*985dup
XM_024447198.1:c.*653_*656dup (MTHFR)	XP_024302966.1:n.*653_*656dup
NM_005957.5:c.*653_*656dup (MTHFR) MANE Select	NP_005948.3:n.*653_*656dup
NM_001330358.2:c.*653_*656dup (MTHFR)	NP_001317287.1:n.*653_*656dup