Canonical Allele Identifier: CA521454912

Gene: C1orf167 MTHFR

Linked Data

• dbSNP Id: rs1244991062
• gnomAD v2: 1-11848233-G-GCAGGCC
• gnomAD v3: 1-11788176-G-GCAGGCC
• gnomAD v4: 1-11788176-G-GCAGGCC
• MyVariant Identifiers: chr1:g.11848233_11848234insCAGGCC (hg19) ; chr1:g.11788176_11788177insCAGGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11788185_11788190dup , CM000663.2:g.11788185_11788190dup	GRCh38
NC_000001.10:g.11848242_11848247dup , CM000663.1:g.11848242_11848247dup	GRCh37
NC_000001.9:g.11770829_11770834dup	NCBI36
NG_013351.1:g.22922_22927dup , LRG_726:g.22922_22927dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3384_3389dup (C1orf167)	ENSP00000414909.3:p.Ala1129_His1130insGlnAla
ENST00000688073.1:c.3885_3890dup (C1orf167) MANE Select	ENSP00000510540.1:p.Ala1296_His1297insGlnAla
ENST00000376585.6:c.*2498_*2503dup (MTHFR)	ENSP00000365770.1:n.*2498_*2503dup
ENST00000376590.9:c.*2498_*2503dup (MTHFR) MANE Select	ENSP00000365775.3:n.*2498_*2503dup
ENST00000376592.6:c.*2498_*2503dup (MTHFR)	ENSP00000365777.1:n.*2498_*2503dup
ENST00000312793.9:c.2020_2025dup (C1orf167)
ENST00000376583.7:c.4592_4597dup (MTHFR)	ENSP00000365767.3:n.4592_4597dup
ENST00000376590.7:c.*2498_*2503dup (MTHFR)	ENSP00000365775.3:n.*2498_*2503dup
ENST00000376592.5:c.*2498_*2503dup (MTHFR)	ENSP00000365777.1:n.*2498_*2503dup
ENST00000433342.5:c.3942_3947dup (C1orf167)	ENSP00000414909.2:p.Ala1315_His1316insGlnAla
ENST00000444493.5:c.1384_1389dup (C1orf167)
ENST00000449278.1:c.1178-58_1178-53dup (C1orf167)
ENST00000482358.1:n.237-58_237-53dup (C1orf167)
NM_001010881.1:c.3885_3890dup (C1orf167)	NP_001010881.1:p.Ala1296_His1297insGlnAla
NM_005957.4:c.*2498_*2503dup , LRG_726t1:c.*2498_*2503dup (MTHFR)	NP_005948.3:n.*2498_*2503dup
XM_006711078.2:c.3885_3890dup (C1orf167)	XP_006711141.1:p.Ala1296_His1297insGlnAla
XM_011541267.1:c.4020_4025dup (C1orf167)	XP_011539569.1:p.Ala1341_His1342insGlnAla
XM_011541268.1:c.4020_4025dup (C1orf167)	XP_011539570.1:p.Ala1341_His1342insGlnAla
XM_011541269.1:c.4020_4025dup (C1orf167)	XP_011539571.1:p.Ala1341_His1342insGlnAla
XM_011541270.1:c.4020_4025dup (C1orf167)	XP_011539572.1:p.Ala1341_His1342insGlnAla
XM_011541271.1:c.3966_3971dup (C1orf167)	XP_011539573.1:p.Ala1323_His1324insGlnAla
XM_011541272.1:c.4020_4025dup (C1orf167)	XP_011539574.1:p.Ala1341_His1342insGlnAla
XM_011541273.1:c.3885_3890dup (C1orf167)	XP_011539575.1:p.Ala1296_His1297insGlnAla
XM_011541274.1:c.3885_3890dup (C1orf167)	XP_011539576.1:p.Ala1296_His1297insGlnAla
XM_011541275.1:c.3885_3890dup (C1orf167)	XP_011539577.1:p.Ala1296_His1297insGlnAla
XM_011541276.1:c.3984-58_3984-53dup (C1orf167)	XP_011539578.1:n.3984-58_3984-53dup
XM_011541277.1:c.3984-58_3984-53dup (C1orf167)	XP_011539579.1:n.3984-58_3984-53dup
XM_011541278.1:c.4020_4025dup (C1orf167)	XP_011539580.1:p.Ala1341_His1342insGlnAla
XM_011541279.1:c.3612_3617dup (C1orf167)	XP_011539581.1:p.Ala1205_His1206insGlnAla
XM_011541280.1:c.2301_2306dup (C1orf167)	XP_011539582.1:p.Ala768_His769insGlnAla
XM_011541281.1:c.2301_2306dup (C1orf167)	XP_011539583.1:p.Ala768_His769insGlnAla
NM_001330358.1:c.*2498_*2503dup (MTHFR)	NP_001317287.1:n.*2498_*2503dup
XM_011541272.3:c.4020_4025dup (C1orf167)	XP_011539574.1:p.Ala1341_His1342insGlnAla
XM_011541276.3:c.3984-58_3984-53dup (C1orf167)	XP_011539578.1:n.3984-58_3984-53dup
XM_011541277.3:c.3984-58_3984-53dup (C1orf167)	XP_011539579.1:n.3984-58_3984-53dup
XM_011541278.2:c.4020_4025dup (C1orf167)	XP_011539580.1:p.Ala1341_His1342insGlnAla
XM_024446506.1:c.4020_4025dup (C1orf167)	XP_024302274.1:p.Ala1341_His1342insGlnAla
XM_024446507.1:c.4020_4025dup (C1orf167)	XP_024302275.1:p.Ala1341_His1342insGlnAla
XM_024446508.1:c.4020_4025dup (C1orf167)	XP_024302276.1:p.Ala1341_His1342insGlnAla
XM_024446509.1:c.4020_4025dup (C1orf167)	XP_024302277.1:p.Ala1341_His1342insGlnAla
XM_024446512.1:c.3966_3971dup (C1orf167)	XP_024302280.1:p.Ala1323_His1324insGlnAla
XM_024446514.1:c.3885_3890dup (C1orf167)	XP_024302282.1:p.Ala1296_His1297insGlnAla
XM_024446515.1:c.3885_3890dup (C1orf167)	XP_024302283.1:p.Ala1296_His1297insGlnAla
XM_024446517.1:c.3885_3890dup (C1orf167)	XP_024302285.1:p.Ala1296_His1297insGlnAla
XM_024446518.1:c.2301_2306dup (C1orf167)	XP_024302286.1:p.Ala768_His769insGlnAla
NM_001010881.2:c.3885_3890dup (C1orf167) MANE Select	NP_001010881.1:p.Ala1296_His1297insGlnAla
NM_005957.5:c.*2498_*2503dup (MTHFR) MANE Select	NP_005948.3:n.*2498_*2503dup
NM_001330358.2:c.*2498_*2503dup (MTHFR)	NP_001317287.1:n.*2498_*2503dup