Canonical Allele Identifier: CA886035626

Gene: C1orf167 MTHFR

Linked Data

• dbSNP Id: rs1362829132
• gnomAD v3: 1-11787475-G-GGAA
• gnomAD v4: 1-11787475-G-GGAA
• MyVariant Identifiers: chr1:g.11847532_11847533insGAA (hg19) ; chr1:g.11787475_11787476insGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11787476_11787478dup , CM000663.2:g.11787476_11787478dup	GRCh38
NC_000001.10:g.11847533_11847535dup , CM000663.1:g.11847533_11847535dup	GRCh37
NC_000001.9:g.11770120_11770122dup	NCBI36
NG_013351.1:g.23626_23628dup , LRG_726:g.23626_23628dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3170_3172dup (C1orf167)	ENSP00000414909.3:p.Gly1057_Thr1058insArg
ENST00000688073.1:c.3656_3658dup (C1orf167) MANE Select	ENSP00000510540.1:p.Gly1219_Thr1220insArg
ENST00000376585.6:c.*3202_*3204dup (MTHFR)	ENSP00000365770.1:n.*3202_*3204dup
ENST00000376590.9:c.*3202_*3204dup (MTHFR) MANE Select	ENSP00000365775.3:n.*3202_*3204dup
ENST00000376592.6:c.*3202_*3204dup (MTHFR)	ENSP00000365777.1:n.*3202_*3204dup
ENST00000312793.9:c.1806_1808dup (C1orf167)
ENST00000376583.7:c.5296_5298dup (MTHFR)	ENSP00000365767.3:n.5296_5298dup
ENST00000376590.7:c.*3202_*3204dup (MTHFR)	ENSP00000365775.3:n.*3202_*3204dup
ENST00000376592.5:c.*3202_*3204dup (MTHFR)	ENSP00000365777.1:n.*3202_*3204dup
ENST00000433342.5:c.3728_3730dup (C1orf167)	ENSP00000414909.2:p.Gly1243_Thr1244insArg
ENST00000444493.5:c.1155_1157dup (C1orf167)
ENST00000449278.1:c.985_987dup (C1orf167)
ENST00000475041.1:n.208_210dup (C1orf167)
NM_001010881.1:c.3656_3658dup (C1orf167)	NP_001010881.1:p.Gly1219_Thr1220insArg
NM_005957.4:c.*3202_*3204dup , LRG_726t1:c.*3202_*3204dup (MTHFR)	NP_005948.3:n.*3202_*3204dup
XM_006711078.2:c.3656_3658dup (C1orf167)	XP_006711141.1:p.Gly1219_Thr1220insArg
XM_011541267.1:c.3791_3793dup (C1orf167)	XP_011539569.1:p.Gly1264_Thr1265insArg
XM_011541268.1:c.3791_3793dup (C1orf167)	XP_011539570.1:p.Gly1264_Thr1265insArg
XM_011541269.1:c.3791_3793dup (C1orf167)	XP_011539571.1:p.Gly1264_Thr1265insArg
XM_011541270.1:c.3791_3793dup (C1orf167)	XP_011539572.1:p.Gly1264_Thr1265insArg
XM_011541271.1:c.3737_3739dup (C1orf167)	XP_011539573.1:p.Gly1246_Thr1247insArg
XM_011541272.1:c.3791_3793dup (C1orf167)	XP_011539574.1:p.Gly1264_Thr1265insArg
XM_011541273.1:c.3656_3658dup (C1orf167)	XP_011539575.1:p.Gly1219_Thr1220insArg
XM_011541274.1:c.3656_3658dup (C1orf167)	XP_011539576.1:p.Gly1219_Thr1220insArg
XM_011541275.1:c.3656_3658dup (C1orf167)	XP_011539577.1:p.Gly1219_Thr1220insArg
XM_011541276.1:c.3791_3793dup (C1orf167)	XP_011539578.1:p.Gly1264_Thr1265insArg
XM_011541277.1:c.3791_3793dup (C1orf167)	XP_011539579.1:p.Gly1264_Thr1265insArg
XM_011541278.1:c.3791_3793dup (C1orf167)	XP_011539580.1:p.Gly1264_Thr1265insArg
XM_011541279.1:c.3383_3385dup (C1orf167)	XP_011539581.1:p.Gly1128_Thr1129insArg
XM_011541280.1:c.2072_2074dup (C1orf167)	XP_011539582.1:p.Gly691_Thr692insArg
XM_011541281.1:c.2072_2074dup (C1orf167)	XP_011539583.1:p.Gly691_Thr692insArg
NM_001330358.1:c.*3202_*3204dup (MTHFR)	NP_001317287.1:n.*3202_*3204dup
XM_011541272.3:c.3791_3793dup (C1orf167)	XP_011539574.1:p.Gly1264_Thr1265insArg
XM_011541276.3:c.3791_3793dup (C1orf167)	XP_011539578.1:p.Gly1264_Thr1265insArg
XM_011541277.3:c.3791_3793dup (C1orf167)	XP_011539579.1:p.Gly1264_Thr1265insArg
XM_011541278.2:c.3791_3793dup (C1orf167)	XP_011539580.1:p.Gly1264_Thr1265insArg
XM_024446506.1:c.3791_3793dup (C1orf167)	XP_024302274.1:p.Gly1264_Thr1265insArg
XM_024446507.1:c.3791_3793dup (C1orf167)	XP_024302275.1:p.Gly1264_Thr1265insArg
XM_024446508.1:c.3791_3793dup (C1orf167)	XP_024302276.1:p.Gly1264_Thr1265insArg
XM_024446509.1:c.3791_3793dup (C1orf167)	XP_024302277.1:p.Gly1264_Thr1265insArg
XM_024446512.1:c.3737_3739dup (C1orf167)	XP_024302280.1:p.Gly1246_Thr1247insArg
XM_024446514.1:c.3656_3658dup (C1orf167)	XP_024302282.1:p.Gly1219_Thr1220insArg
XM_024446515.1:c.3656_3658dup (C1orf167)	XP_024302283.1:p.Gly1219_Thr1220insArg
XM_024446517.1:c.3656_3658dup (C1orf167)	XP_024302285.1:p.Gly1219_Thr1220insArg
XM_024446518.1:c.2072_2074dup (C1orf167)	XP_024302286.1:p.Gly691_Thr692insArg
NM_001010881.2:c.3656_3658dup (C1orf167) MANE Select	NP_001010881.1:p.Gly1219_Thr1220insArg
NM_005957.5:c.*3202_*3204dup (MTHFR) MANE Select	NP_005948.3:n.*3202_*3204dup
NM_001330358.2:c.*3202_*3204dup (MTHFR)	NP_001317287.1:n.*3202_*3204dup