Canonical Allele Identifier: CA2643298590

Gene: MTHFR C1orf167

Linked Data

• gnomAD v4: 1-11790086-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790086C>G , CM000663.2:g.11790086C>G	GRCh38
NC_000001.10:g.11850143C>G , CM000663.1:g.11850143C>G	GRCh37
NC_000001.9:g.11772730C>G	NCBI36
NG_013351.1:g.21018G>C , LRG_726:g.21018G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*594G>C (MTHFR)	ENSP00000365770.1:n.*594G>C
ENST00000376590.9:c.*594G>C (MTHFR) MANE Select	ENSP00000365775.3:n.*594G>C
ENST00000376592.6:c.*594G>C (MTHFR)	ENSP00000365777.1:n.*594G>C
ENST00000423400.7:c.*594G>C (MTHFR)	ENSP00000398908.3:n.*594G>C
ENST00000641446.1:c.*1024G>C (MTHFR)	ENSP00000493262.1:n.*1024G>C
ENST00000641747.1:c.*2077G>C (MTHFR)	ENSP00000493116.1:n.*2077G>C
ENST00000641805.1:n.2900G>C (MTHFR)
ENST00000376583.7:c.2688G>C (MTHFR)	ENSP00000365767.3:n.2688G>C
ENST00000376585.5:c.*594G>C (MTHFR)	ENSP00000365770.1:n.*594G>C
ENST00000376590.7:c.*594G>C (MTHFR)	ENSP00000365775.3:n.*594G>C
ENST00000376592.5:c.*594G>C (MTHFR)	ENSP00000365777.1:n.*594G>C
NM_005957.4:c.*594G>C , LRG_726t1:c.*594G>C (MTHFR)	NP_005948.3:n.*594G>C
XM_005263458.2:c.*594G>C (MTHFR)	XP_005263515.1:n.*594G>C
XM_005263460.3:c.*594G>C (MTHFR)	XP_005263517.1:n.*594G>C
XM_005263461.3:c.*594G>C (MTHFR)	XP_005263518.1:n.*594G>C
XM_005263462.3:c.*594G>C (MTHFR)	XP_005263519.1:n.*594G>C
XM_005263463.2:c.*594G>C (MTHFR)	XP_005263520.1:n.*594G>C
XM_011541495.1:c.*594G>C (MTHFR)	XP_011539797.1:n.*594G>C
XM_011541496.1:c.*454G>C (MTHFR)	XP_011539798.1:n.*454G>C
NM_001330358.1:c.*594G>C (MTHFR)	NP_001317287.1:n.*594G>C
XM_005263460.5:c.*594G>C (MTHFR)	XP_005263517.1:n.*594G>C
XM_005263462.4:c.*594G>C (MTHFR)	XP_005263519.1:n.*594G>C
XM_005263463.4:c.*594G>C (MTHFR)	XP_005263520.1:n.*594G>C
XM_011541272.3:c.*640C>G (C1orf167)	XP_011539574.1:n.*640C>G
XM_011541276.3:c.*627C>G (C1orf167)	XP_011539578.1:n.*627C>G
XM_011541277.3:c.*640C>G (C1orf167)	XP_011539579.1:n.*640C>G
XM_011541495.3:c.*594G>C (MTHFR)	XP_011539797.1:n.*594G>C
XM_011541496.3:c.*454G>C (MTHFR)	XP_011539798.1:n.*454G>C
XM_024446506.1:c.*1043C>G (C1orf167)	XP_024302274.1:n.*1043C>G
XM_024446507.1:c.*1043C>G (C1orf167)	XP_024302275.1:n.*1043C>G
XM_024446508.1:c.*1043C>G (C1orf167)	XP_024302276.1:n.*1043C>G
XM_024446509.1:c.*1043C>G (C1orf167)	XP_024302277.1:n.*1043C>G
XM_024446512.1:c.*1043C>G (C1orf167)	XP_024302280.1:n.*1043C>G
XM_024446514.1:c.*1043C>G (C1orf167)	XP_024302282.1:n.*1043C>G
XM_024446515.1:c.*1043C>G (C1orf167)	XP_024302283.1:n.*1043C>G
XM_024446517.1:c.*1043C>G (C1orf167)	XP_024302285.1:n.*1043C>G
XM_024446518.1:c.*1043C>G (C1orf167)	XP_024302286.1:n.*1043C>G
XM_024447198.1:c.*594G>C (MTHFR)	XP_024302966.1:n.*594G>C
NM_005957.5:c.*594G>C (MTHFR) MANE Select	NP_005948.3:n.*594G>C
NM_001330358.2:c.*594G>C (MTHFR)	NP_001317287.1:n.*594G>C