Canonical Allele Identifier: CA2643294287

Gene: C1orf167 MTHFR

Linked Data

• dbSNP Id: rs2100445402
• gnomAD v4: 1-11787282-A-AAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11787282_11787283insAGG , CM000663.2:g.11787282_11787283insAGG	GRCh38
NC_000001.10:g.11847339_11847340insAGG , CM000663.1:g.11847339_11847340insAGG	GRCh37
NC_000001.9:g.11769926_11769927insAGG	NCBI36
NG_013351.1:g.23821_23822insCCT , LRG_726:g.23821_23822insCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3082-106_3082-105insAGG (C1orf167)	ENSP00000414909.3:n.3082-106_3082-105insAGG
ENST00000688073.1:c.3568-106_3568-105insAGG (C1orf167) MANE Select	ENSP00000510540.1:n.3568-106_3568-105insAGG
ENST00000376585.6:c.*3397_*3398insCCT (MTHFR)	ENSP00000365770.1:n.*3397_*3398insCCT
ENST00000376590.9:c.*3397_*3398insCCT (MTHFR) MANE Select	ENSP00000365775.3:n.*3397_*3398insCCT
ENST00000376592.6:c.*3397_*3398insCCT (MTHFR)	ENSP00000365777.1:n.*3397_*3398insCCT
ENST00000312793.9:c.1718-106_1718-105insAGG (C1orf167)
ENST00000376583.7:c.5491_5492insCCT (MTHFR)	ENSP00000365767.3:n.5491_5492insCCT
ENST00000376590.7:c.*3397_*3398insCCT (MTHFR)	ENSP00000365775.3:n.*3397_*3398insCCT
ENST00000376592.5:c.*3397_*3398insCCT (MTHFR)	ENSP00000365777.1:n.*3397_*3398insCCT
ENST00000433342.5:c.3640-106_3640-105insAGG (C1orf167)	ENSP00000414909.2:n.3640-106_3640-105insAGG
ENST00000444493.5:c.1067-106_1067-105insAGG (C1orf167)
ENST00000449278.1:c.897-106_897-105insAGG (C1orf167)
ENST00000475041.1:n.120-106_120-105insAGG (C1orf167)
NM_001010881.1:c.3568-106_3568-105insAGG (C1orf167)	NP_001010881.1:n.3568-106_3568-105insAGG
NM_005957.4:c.*3397_*3398insCCT , LRG_726t1:c.*3397_*3398insCCT (MTHFR)	NP_005948.3:n.*3397_*3398insCCT
XM_006711078.2:c.3568-106_3568-105insAGG (C1orf167)	XP_006711141.1:n.3568-106_3568-105insAGG
XM_011541267.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539569.1:n.3703-106_3703-105insAGG
XM_011541268.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539570.1:n.3703-106_3703-105insAGG
XM_011541269.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539571.1:n.3703-106_3703-105insAGG
XM_011541270.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539572.1:n.3703-106_3703-105insAGG
XM_011541271.1:c.3649-106_3649-105insAGG (C1orf167)	XP_011539573.1:n.3649-106_3649-105insAGG
XM_011541272.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539574.1:n.3703-106_3703-105insAGG
XM_011541273.1:c.3568-106_3568-105insAGG (C1orf167)	XP_011539575.1:n.3568-106_3568-105insAGG
XM_011541274.1:c.3568-106_3568-105insAGG (C1orf167)	XP_011539576.1:n.3568-106_3568-105insAGG
XM_011541275.1:c.3568-106_3568-105insAGG (C1orf167)	XP_011539577.1:n.3568-106_3568-105insAGG
XM_011541276.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539578.1:n.3703-106_3703-105insAGG
XM_011541277.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539579.1:n.3703-106_3703-105insAGG
XM_011541278.1:c.3703-106_3703-105insAGG (C1orf167)	XP_011539580.1:n.3703-106_3703-105insAGG
XM_011541279.1:c.3295-106_3295-105insAGG (C1orf167)	XP_011539581.1:n.3295-106_3295-105insAGG
XM_011541280.1:c.1984-106_1984-105insAGG (C1orf167)	XP_011539582.1:n.1984-106_1984-105insAGG
XM_011541281.1:c.1984-106_1984-105insAGG (C1orf167)	XP_011539583.1:n.1984-106_1984-105insAGG
NM_001330358.1:c.*3397_*3398insCCT (MTHFR)	NP_001317287.1:n.*3397_*3398insCCT
XM_011541272.3:c.3703-106_3703-105insAGG (C1orf167)	XP_011539574.1:n.3703-106_3703-105insAGG
XM_011541276.3:c.3703-106_3703-105insAGG (C1orf167)	XP_011539578.1:n.3703-106_3703-105insAGG
XM_011541277.3:c.3703-106_3703-105insAGG (C1orf167)	XP_011539579.1:n.3703-106_3703-105insAGG
XM_011541278.2:c.3703-106_3703-105insAGG (C1orf167)	XP_011539580.1:n.3703-106_3703-105insAGG
XM_024446506.1:c.3703-106_3703-105insAGG (C1orf167)	XP_024302274.1:n.3703-106_3703-105insAGG
XM_024446507.1:c.3703-106_3703-105insAGG (C1orf167)	XP_024302275.1:n.3703-106_3703-105insAGG
XM_024446508.1:c.3703-106_3703-105insAGG (C1orf167)	XP_024302276.1:n.3703-106_3703-105insAGG
XM_024446509.1:c.3703-106_3703-105insAGG (C1orf167)	XP_024302277.1:n.3703-106_3703-105insAGG
XM_024446512.1:c.3649-106_3649-105insAGG (C1orf167)	XP_024302280.1:n.3649-106_3649-105insAGG
XM_024446514.1:c.3568-106_3568-105insAGG (C1orf167)	XP_024302282.1:n.3568-106_3568-105insAGG
XM_024446515.1:c.3568-106_3568-105insAGG (C1orf167)	XP_024302283.1:n.3568-106_3568-105insAGG
XM_024446517.1:c.3568-106_3568-105insAGG (C1orf167)	XP_024302285.1:n.3568-106_3568-105insAGG
XM_024446518.1:c.1984-106_1984-105insAGG (C1orf167)	XP_024302286.1:n.1984-106_1984-105insAGG
NM_001010881.2:c.3568-106_3568-105insAGG (C1orf167) MANE Select	NP_001010881.1:n.3568-106_3568-105insAGG
NM_005957.5:c.*3397_*3398insCCT (MTHFR) MANE Select	NP_005948.3:n.*3397_*3398insCCT
NM_001330358.2:c.*3397_*3398insCCT (MTHFR)	NP_001317287.1:n.*3397_*3398insCCT