Canonical Allele Identifier: CA2643297927

Gene: MTHFR C1orf167

Linked Data

• gnomAD v4: 1-11789766-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11789766G>C , CM000663.2:g.11789766G>C	GRCh38
NC_000001.10:g.11849823G>C , CM000663.1:g.11849823G>C	GRCh37
NC_000001.9:g.11772410G>C	NCBI36
NG_013351.1:g.21338C>G , LRG_726:g.21338C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*914C>G (MTHFR)	ENSP00000365770.1:n.*914C>G
ENST00000376590.9:c.*914C>G (MTHFR) MANE Select	ENSP00000365775.3:n.*914C>G
ENST00000376592.6:c.*914C>G (MTHFR)	ENSP00000365777.1:n.*914C>G
ENST00000641747.1:c.*2397C>G (MTHFR)	ENSP00000493116.1:n.*2397C>G
ENST00000376583.7:c.3008C>G (MTHFR)	ENSP00000365767.3:n.3008C>G
ENST00000376585.5:c.*914C>G (MTHFR)	ENSP00000365770.1:n.*914C>G
ENST00000376590.7:c.*914C>G (MTHFR)	ENSP00000365775.3:n.*914C>G
ENST00000376592.5:c.*914C>G (MTHFR)	ENSP00000365777.1:n.*914C>G
NM_005957.4:c.*914C>G , LRG_726t1:c.*914C>G (MTHFR)	NP_005948.3:n.*914C>G
NM_001330358.1:c.*914C>G (MTHFR)	NP_001317287.1:n.*914C>G
XM_011541272.3:c.*320G>C (C1orf167)	XP_011539574.1:n.*320G>C
XM_011541276.3:c.*307G>C (C1orf167)	XP_011539578.1:n.*307G>C
XM_011541277.3:c.*320G>C (C1orf167)	XP_011539579.1:n.*320G>C
XM_024446506.1:c.*723G>C (C1orf167)	XP_024302274.1:n.*723G>C
XM_024446507.1:c.*723G>C (C1orf167)	XP_024302275.1:n.*723G>C
XM_024446508.1:c.*723G>C (C1orf167)	XP_024302276.1:n.*723G>C
XM_024446509.1:c.*723G>C (C1orf167)	XP_024302277.1:n.*723G>C
XM_024446512.1:c.*723G>C (C1orf167)	XP_024302280.1:n.*723G>C
XM_024446514.1:c.*723G>C (C1orf167)	XP_024302282.1:n.*723G>C
XM_024446515.1:c.*723G>C (C1orf167)	XP_024302283.1:n.*723G>C
XM_024446517.1:c.*723G>C (C1orf167)	XP_024302285.1:n.*723G>C
XM_024446518.1:c.*723G>C (C1orf167)	XP_024302286.1:n.*723G>C
NM_005957.5:c.*914C>G (MTHFR) MANE Select	NP_005948.3:n.*914C>G
NM_001330358.2:c.*914C>G (MTHFR)	NP_001317287.1:n.*914C>G