Canonical Allele Identifier: CA998619031

Gene: MTHFR C1orf167

Linked Data

• dbSNP Id: rs1644037426
• gnomAD v3: 1-11790020-A-G
• gnomAD v4: 1-11790020-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790020A>G , CM000663.2:g.11790020A>G	GRCh38
NC_000001.10:g.11850077A>G , CM000663.1:g.11850077A>G	GRCh37
NC_000001.9:g.11772664A>G	NCBI36
NG_013351.1:g.21084T>C , LRG_726:g.21084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.*660T>C (MTHFR)	ENSP00000365770.1:n.*660T>C
ENST00000376590.9:c.*660T>C (MTHFR) MANE Select	ENSP00000365775.3:n.*660T>C
ENST00000376592.6:c.*660T>C (MTHFR)	ENSP00000365777.1:n.*660T>C
ENST00000641747.1:c.*2143T>C (MTHFR)	ENSP00000493116.1:n.*2143T>C
ENST00000376583.7:c.2754T>C (MTHFR)	ENSP00000365767.3:n.2754T>C
ENST00000376585.5:c.*660T>C (MTHFR)	ENSP00000365770.1:n.*660T>C
ENST00000376590.7:c.*660T>C (MTHFR)	ENSP00000365775.3:n.*660T>C
ENST00000376592.5:c.*660T>C (MTHFR)	ENSP00000365777.1:n.*660T>C
NM_005957.4:c.*660T>C , LRG_726t1:c.*660T>C (MTHFR)	NP_005948.3:n.*660T>C
XM_005263458.2:c.*660T>C (MTHFR)	XP_005263515.1:n.*660T>C
XM_005263460.3:c.*660T>C (MTHFR)	XP_005263517.1:n.*660T>C
XM_005263461.3:c.*660T>C (MTHFR)	XP_005263518.1:n.*660T>C
XM_005263462.3:c.*660T>C (MTHFR)	XP_005263519.1:n.*660T>C
XM_005263463.2:c.*660T>C (MTHFR)	XP_005263520.1:n.*660T>C
XM_011541495.1:c.*660T>C (MTHFR)	XP_011539797.1:n.*660T>C
XM_011541496.1:c.*520T>C (MTHFR)	XP_011539798.1:n.*520T>C
NM_001330358.1:c.*660T>C (MTHFR)	NP_001317287.1:n.*660T>C
XM_011541272.3:c.*574A>G (C1orf167)	XP_011539574.1:n.*574A>G
XM_011541276.3:c.*561A>G (C1orf167)	XP_011539578.1:n.*561A>G
XM_011541277.3:c.*574A>G (C1orf167)	XP_011539579.1:n.*574A>G
XM_024446506.1:c.*977A>G (C1orf167)	XP_024302274.1:n.*977A>G
XM_024446507.1:c.*977A>G (C1orf167)	XP_024302275.1:n.*977A>G
XM_024446508.1:c.*977A>G (C1orf167)	XP_024302276.1:n.*977A>G
XM_024446509.1:c.*977A>G (C1orf167)	XP_024302277.1:n.*977A>G
XM_024446512.1:c.*977A>G (C1orf167)	XP_024302280.1:n.*977A>G
XM_024446514.1:c.*977A>G (C1orf167)	XP_024302282.1:n.*977A>G
XM_024446515.1:c.*977A>G (C1orf167)	XP_024302283.1:n.*977A>G
XM_024446517.1:c.*977A>G (C1orf167)	XP_024302285.1:n.*977A>G
XM_024446518.1:c.*977A>G (C1orf167)	XP_024302286.1:n.*977A>G
NM_005957.5:c.*660T>C (MTHFR) MANE Select	NP_005948.3:n.*660T>C
NM_001330358.2:c.*660T>C (MTHFR)	NP_001317287.1:n.*660T>C