Canonical Allele Identifier: CA2643298136

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs2100487541
• gnomAD v4: 1-11789853-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789853C>A , CM000663.2:g.11789853C>A	GRCh38
NC_000001.10:g.11849910C>A , CM000663.1:g.11849910C>A	GRCh37
NC_000001.9:g.11772497C>A	NCBI36
NG_013351.1:g.21251G>T , LRG_726:g.21251G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*827G>T (MTHFR)	ENSP00000365770.1:n.*827G>T
ENST00000376590.9:c.*827G>T (MTHFR) MANE Select	ENSP00000365775.3:n.*827G>T
ENST00000376592.6:c.*827G>T (MTHFR)	ENSP00000365777.1:n.*827G>T
ENST00000641747.1:c.*2310G>T (MTHFR)	ENSP00000493116.1:n.*2310G>T
ENST00000376583.7:c.2921G>T (MTHFR)	ENSP00000365767.3:n.2921G>T
ENST00000376585.5:c.*827G>T (MTHFR)	ENSP00000365770.1:n.*827G>T
ENST00000376590.7:c.*827G>T (MTHFR)	ENSP00000365775.3:n.*827G>T
ENST00000376592.5:c.*827G>T (MTHFR)	ENSP00000365777.1:n.*827G>T
NM_005957.4:c.*827G>T , LRG_726t1:c.*827G>T (MTHFR)	NP_005948.3:n.*827G>T
NM_001330358.1:c.*827G>T (MTHFR)	NP_001317287.1:n.*827G>T
XM_011541272.3:c.*407C>A (C1orf167)	XP_011539574.1:n.*407C>A
XM_011541276.3:c.*394C>A (C1orf167)	XP_011539578.1:n.*394C>A
XM_011541277.3:c.*407C>A (C1orf167)	XP_011539579.1:n.*407C>A
XM_024446506.1:c.*810C>A (C1orf167)	XP_024302274.1:n.*810C>A
XM_024446507.1:c.*810C>A (C1orf167)	XP_024302275.1:n.*810C>A
XM_024446508.1:c.*810C>A (C1orf167)	XP_024302276.1:n.*810C>A
XM_024446509.1:c.*810C>A (C1orf167)	XP_024302277.1:n.*810C>A
XM_024446512.1:c.*810C>A (C1orf167)	XP_024302280.1:n.*810C>A
XM_024446514.1:c.*810C>A (C1orf167)	XP_024302282.1:n.*810C>A
XM_024446515.1:c.*810C>A (C1orf167)	XP_024302283.1:n.*810C>A
XM_024446517.1:c.*810C>A (C1orf167)	XP_024302285.1:n.*810C>A
XM_024446518.1:c.*810C>A (C1orf167)	XP_024302286.1:n.*810C>A
NM_005957.5:c.*827G>T (MTHFR) MANE Select	NP_005948.3:n.*827G>T
NM_001330358.2:c.*827G>T (MTHFR)	NP_001317287.1:n.*827G>T