Canonical Allele Identifier: CA998618963

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs1230395287
• gnomAD v3: 1-11789902-T-A
• gnomAD v4: 1-11789902-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789902T>A , CM000663.2:g.11789902T>A	GRCh38
NC_000001.10:g.11849959T>A , CM000663.1:g.11849959T>A	GRCh37
NC_000001.9:g.11772546T>A	NCBI36
NG_013351.1:g.21202A>T , LRG_726:g.21202A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*778A>T (MTHFR)	ENSP00000365770.1:n.*778A>T
ENST00000376590.9:c.*778A>T (MTHFR) MANE Select	ENSP00000365775.3:n.*778A>T
ENST00000376592.6:c.*778A>T (MTHFR)	ENSP00000365777.1:n.*778A>T
ENST00000641747.1:c.*2261A>T (MTHFR)	ENSP00000493116.1:n.*2261A>T
ENST00000376583.7:c.2872A>T (MTHFR)	ENSP00000365767.3:n.2872A>T
ENST00000376585.5:c.*778A>T (MTHFR)	ENSP00000365770.1:n.*778A>T
ENST00000376590.7:c.*778A>T (MTHFR)	ENSP00000365775.3:n.*778A>T
ENST00000376592.5:c.*778A>T (MTHFR)	ENSP00000365777.1:n.*778A>T
NM_005957.4:c.*778A>T , LRG_726t1:c.*778A>T (MTHFR)	NP_005948.3:n.*778A>T
XM_005263458.2:c.*778A>T (MTHFR)	XP_005263515.1:n.*778A>T
XM_005263460.3:c.*778A>T (MTHFR)	XP_005263517.1:n.*778A>T
XM_005263461.3:c.*778A>T (MTHFR)	XP_005263518.1:n.*778A>T
XM_005263462.3:c.*778A>T (MTHFR)	XP_005263519.1:n.*778A>T
XM_005263463.2:c.*778A>T (MTHFR)	XP_005263520.1:n.*778A>T
XM_011541495.1:c.*778A>T (MTHFR)	XP_011539797.1:n.*778A>T
XM_011541496.1:c.*638A>T (MTHFR)	XP_011539798.1:n.*638A>T
NM_001330358.1:c.*778A>T (MTHFR)	NP_001317287.1:n.*778A>T
XM_011541272.3:c.*456T>A (C1orf167)	XP_011539574.1:n.*456T>A
XM_011541276.3:c.*443T>A (C1orf167)	XP_011539578.1:n.*443T>A
XM_011541277.3:c.*456T>A (C1orf167)	XP_011539579.1:n.*456T>A
XM_024446506.1:c.*859T>A (C1orf167)	XP_024302274.1:n.*859T>A
XM_024446507.1:c.*859T>A (C1orf167)	XP_024302275.1:n.*859T>A
XM_024446508.1:c.*859T>A (C1orf167)	XP_024302276.1:n.*859T>A
XM_024446509.1:c.*859T>A (C1orf167)	XP_024302277.1:n.*859T>A
XM_024446512.1:c.*859T>A (C1orf167)	XP_024302280.1:n.*859T>A
XM_024446514.1:c.*859T>A (C1orf167)	XP_024302282.1:n.*859T>A
XM_024446515.1:c.*859T>A (C1orf167)	XP_024302283.1:n.*859T>A
XM_024446517.1:c.*859T>A (C1orf167)	XP_024302285.1:n.*859T>A
XM_024446518.1:c.*859T>A (C1orf167)	XP_024302286.1:n.*859T>A
NM_005957.5:c.*778A>T (MTHFR) MANE Select	NP_005948.3:n.*778A>T
NM_001330358.2:c.*778A>T (MTHFR)	NP_001317287.1:n.*778A>T