Canonical Allele Identifier: CA338470268

Gene: C1orf167 MTHFR

Linked Data

• dbSNP Id: rs1348244931
• gnomAD v3: 1-11788259-C-T
• gnomAD v4: 1-11788259-C-T
• MyVariant Identifiers: chr1:g.11848316C>T (hg19) ; chr1:g.11788259C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11788259C>T , CM000663.2:g.11788259C>T	GRCh38
NC_000001.10:g.11848316C>T , CM000663.1:g.11848316C>T	GRCh37
NC_000001.9:g.11770903C>T	NCBI36
NG_013351.1:g.22845G>A , LRG_726:g.22845G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3458C>T (C1orf167)	ENSP00000414909.3:p.Ala1153Val
ENST00000688073.1:c.3959C>T (C1orf167) MANE Select	ENSP00000510540.1:p.Ala1320Val
ENST00000376585.6:c.*2421G>A (MTHFR)	ENSP00000365770.1:n.*2421G>A
ENST00000376590.9:c.*2421G>A (MTHFR) MANE Select	ENSP00000365775.3:n.*2421G>A
ENST00000376592.6:c.*2421G>A (MTHFR)	ENSP00000365777.1:n.*2421G>A
ENST00000312793.9:c.2094C>T (C1orf167)
ENST00000376583.7:c.4515G>A (MTHFR)	ENSP00000365767.3:n.4515G>A
ENST00000376590.7:c.*2421G>A (MTHFR)	ENSP00000365775.3:n.*2421G>A
ENST00000376592.5:c.*2421G>A (MTHFR)	ENSP00000365777.1:n.*2421G>A
ENST00000433342.5:c.4016C>T (C1orf167)	ENSP00000414909.2:p.Ala1339Val
ENST00000444493.5:c.1458C>T (C1orf167)
ENST00000449278.1:c.1194C>T (C1orf167)
ENST00000482358.1:n.253C>T (C1orf167)
NM_001010881.1:c.3959C>T (C1orf167)	NP_001010881.1:p.Ala1320Val
NM_005957.4:c.*2421G>A , LRG_726t1:c.*2421G>A (MTHFR)	NP_005948.3:n.*2421G>A
XM_006711078.2:c.3959C>T (C1orf167)	XP_006711141.1:p.Ala1320Val
XM_011541267.1:c.4094C>T (C1orf167)	XP_011539569.1:p.Ala1365Val
XM_011541268.1:c.4094C>T (C1orf167)	XP_011539570.1:p.Ala1365Val
XM_011541269.1:c.4094C>T (C1orf167)	XP_011539571.1:p.Ala1365Val
XM_011541270.1:c.4094C>T (C1orf167)	XP_011539572.1:p.Ala1365Val
XM_011541271.1:c.4040C>T (C1orf167)	XP_011539573.1:p.Ala1347Val
XM_011541272.1:c.4094C>T (C1orf167)	XP_011539574.1:p.Ala1365Val
XM_011541273.1:c.3959C>T (C1orf167)	XP_011539575.1:p.Ala1320Val
XM_011541274.1:c.3959C>T (C1orf167)	XP_011539576.1:p.Ala1320Val
XM_011541275.1:c.3959C>T (C1orf167)	XP_011539577.1:p.Ala1320Val
XM_011541276.1:c.4000C>T (C1orf167)	XP_011539578.1:p.Arg1334Cys
XM_011541277.1:c.4000C>T (C1orf167)	XP_011539579.1:p.Arg1334Cys
XM_011541278.1:c.4094C>T (C1orf167)	XP_011539580.1:p.Ala1365Val
XM_011541279.1:c.3686C>T (C1orf167)	XP_011539581.1:p.Ala1229Val
XM_011541280.1:c.2375C>T (C1orf167)	XP_011539582.1:p.Ala792Val
XM_011541281.1:c.2375C>T (C1orf167)	XP_011539583.1:p.Ala792Val
NM_001330358.1:c.*2421G>A (MTHFR)	NP_001317287.1:n.*2421G>A
XM_011541272.3:c.4094C>T (C1orf167)	XP_011539574.1:p.Ala1365Val
XM_011541276.3:c.4000C>T (C1orf167)	XP_011539578.1:p.Arg1334Cys
XM_011541277.3:c.4000C>T (C1orf167)	XP_011539579.1:p.Arg1334Cys
XM_011541278.2:c.4094C>T (C1orf167)	XP_011539580.1:p.Ala1365Val
XM_024446506.1:c.4094C>T (C1orf167)	XP_024302274.1:p.Ala1365Val
XM_024446507.1:c.4094C>T (C1orf167)	XP_024302275.1:p.Ala1365Val
XM_024446508.1:c.4094C>T (C1orf167)	XP_024302276.1:p.Ala1365Val
XM_024446509.1:c.4094C>T (C1orf167)	XP_024302277.1:p.Ala1365Val
XM_024446512.1:c.4040C>T (C1orf167)	XP_024302280.1:p.Ala1347Val
XM_024446514.1:c.3959C>T (C1orf167)	XP_024302282.1:p.Ala1320Val
XM_024446515.1:c.3959C>T (C1orf167)	XP_024302283.1:p.Ala1320Val
XM_024446517.1:c.3959C>T (C1orf167)	XP_024302285.1:p.Ala1320Val
XM_024446518.1:c.2375C>T (C1orf167)	XP_024302286.1:p.Ala792Val
NM_001010881.2:c.3959C>T (C1orf167) MANE Select	NP_001010881.1:p.Ala1320Val
NM_005957.5:c.*2421G>A (MTHFR) MANE Select	NP_005948.3:n.*2421G>A
NM_001330358.2:c.*2421G>A (MTHFR)	NP_001317287.1:n.*2421G>A