Canonical Allele Identifier: CA2643298819

Gene: MTHFR C1orf167

Linked Data

• gnomAD v4: 1-11790192-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790192G>T , CM000663.2:g.11790192G>T	GRCh38
NC_000001.10:g.11850249G>T , CM000663.1:g.11850249G>T	GRCh37
NC_000001.9:g.11772836G>T	NCBI36
NG_013351.1:g.20912C>A , LRG_726:g.20912C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*488C>A (MTHFR)	ENSP00000365770.1:n.*488C>A
ENST00000376590.9:c.*488C>A (MTHFR) MANE Select	ENSP00000365775.3:n.*488C>A
ENST00000376592.6:c.*488C>A (MTHFR)	ENSP00000365777.1:n.*488C>A
ENST00000423400.7:c.*488C>A (MTHFR)	ENSP00000398908.3:n.*488C>A
ENST00000641446.1:c.*918C>A (MTHFR)	ENSP00000493262.1:n.*918C>A
ENST00000641747.1:c.*1971C>A (MTHFR)	ENSP00000493116.1:n.*1971C>A
ENST00000641805.1:n.2794C>A (MTHFR)
ENST00000376583.7:c.2582C>A (MTHFR)	ENSP00000365767.3:n.2582C>A
ENST00000376585.5:c.*488C>A (MTHFR)	ENSP00000365770.1:n.*488C>A
ENST00000376590.7:c.*488C>A (MTHFR)	ENSP00000365775.3:n.*488C>A
ENST00000376592.5:c.*488C>A (MTHFR)	ENSP00000365777.1:n.*488C>A
NM_005957.4:c.*488C>A , LRG_726t1:c.*488C>A (MTHFR)	NP_005948.3:n.*488C>A
XM_005263458.2:c.*488C>A (MTHFR)	XP_005263515.1:n.*488C>A
XM_005263460.3:c.*488C>A (MTHFR)	XP_005263517.1:n.*488C>A
XM_005263461.3:c.*488C>A (MTHFR)	XP_005263518.1:n.*488C>A
XM_005263462.3:c.*488C>A (MTHFR)	XP_005263519.1:n.*488C>A
XM_005263463.2:c.*488C>A (MTHFR)	XP_005263520.1:n.*488C>A
XM_011541495.1:c.*488C>A (MTHFR)	XP_011539797.1:n.*488C>A
XM_011541496.1:c.*348C>A (MTHFR)	XP_011539798.1:n.*348C>A
NM_001330358.1:c.*488C>A (MTHFR)	NP_001317287.1:n.*488C>A
XM_005263460.5:c.*488C>A (MTHFR)	XP_005263517.1:n.*488C>A
XM_005263462.4:c.*488C>A (MTHFR)	XP_005263519.1:n.*488C>A
XM_005263463.4:c.*488C>A (MTHFR)	XP_005263520.1:n.*488C>A
XM_011541272.3:c.*746G>T (C1orf167)	XP_011539574.1:n.*746G>T
XM_011541276.3:c.*733G>T (C1orf167)	XP_011539578.1:n.*733G>T
XM_011541277.3:c.*746G>T (C1orf167)	XP_011539579.1:n.*746G>T
XM_011541495.3:c.*488C>A (MTHFR)	XP_011539797.1:n.*488C>A
XM_011541496.3:c.*348C>A (MTHFR)	XP_011539798.1:n.*348C>A
XM_024446506.1:c.*1149G>T (C1orf167)	XP_024302274.1:n.*1149G>T
XM_024446507.1:c.*1149G>T (C1orf167)	XP_024302275.1:n.*1149G>T
XM_024446508.1:c.*1149G>T (C1orf167)	XP_024302276.1:n.*1149G>T
XM_024446509.1:c.*1149G>T (C1orf167)	XP_024302277.1:n.*1149G>T
XM_024446512.1:c.*1149G>T (C1orf167)	XP_024302280.1:n.*1149G>T
XM_024446514.1:c.*1149G>T (C1orf167)	XP_024302282.1:n.*1149G>T
XM_024446515.1:c.*1149G>T (C1orf167)	XP_024302283.1:n.*1149G>T
XM_024446517.1:c.*1149G>T (C1orf167)	XP_024302285.1:n.*1149G>T
XM_024446518.1:c.*1149G>T (C1orf167)	XP_024302286.1:n.*1149G>T
XM_024447198.1:c.*488C>A (MTHFR)	XP_024302966.1:n.*488C>A
NM_005957.5:c.*488C>A (MTHFR) MANE Select	NP_005948.3:n.*488C>A
NM_001330358.2:c.*488C>A (MTHFR)	NP_001317287.1:n.*488C>A