Canonical Allele Identifier: CA2643294456

Gene: C1orf167 MTHFR

Linked Data

• gnomAD v4: 1-11787490-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11787493_11787494del , CM000663.2:g.11787493_11787494del	GRCh38
NC_000001.10:g.11847550_11847551del , CM000663.1:g.11847550_11847551del	GRCh37
NC_000001.9:g.11770137_11770138del	NCBI36
NG_013351.1:g.23612_23613del , LRG_726:g.23612_23613del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3187_3187+1del (C1orf167)
ENST00000688073.1:c.3673_3673+1del (C1orf167)
ENST00000376585.6:c.*3188_*3189del (MTHFR)	ENSP00000365770.1:n.*3188_*3189del
ENST00000376590.9:c.*3188_*3189del (MTHFR) MANE Select	ENSP00000365775.3:n.*3188_*3189del
ENST00000376592.6:c.*3188_*3189del (MTHFR)	ENSP00000365777.1:n.*3188_*3189del
ENST00000312793.9:c.1823_1823+1del (C1orf167)
ENST00000376583.7:c.5282_5283del (MTHFR)	ENSP00000365767.3:n.5282_5283del
ENST00000376590.7:c.*3188_*3189del (MTHFR)	ENSP00000365775.3:n.*3188_*3189del
ENST00000376592.5:c.*3188_*3189del (MTHFR)	ENSP00000365777.1:n.*3188_*3189del
ENST00000433342.5:c.3745_3745+1del (C1orf167)
ENST00000444493.5:c.1172_1172+1del (C1orf167)
ENST00000449278.1:c.1002_1002+1del (C1orf167)
ENST00000475041.1:n.225_226del (C1orf167)
NM_001010881.1:c.3673_3673+1del (C1orf167)
NM_005957.4:c.*3188_*3189del , LRG_726t1:c.*3188_*3189del (MTHFR)	NP_005948.3:n.*3188_*3189del
XM_006711078.2:c.3673_3673+1del (C1orf167)
XM_011541267.1:c.3808_3808+1del (C1orf167)
XM_011541268.1:c.3808_3808+1del (C1orf167)
XM_011541269.1:c.3808_3808+1del (C1orf167)
XM_011541270.1:c.3808_3808+1del (C1orf167)
XM_011541271.1:c.3754_3754+1del (C1orf167)
XM_011541272.1:c.3808_3808+1del (C1orf167)
XM_011541273.1:c.3673_3673+1del (C1orf167)
XM_011541274.1:c.3673_3673+1del (C1orf167)
XM_011541275.1:c.3673_3673+1del (C1orf167)
XM_011541276.1:c.3808_3808+1del (C1orf167)
XM_011541277.1:c.3808_3808+1del (C1orf167)
XM_011541278.1:c.3808_3808+1del (C1orf167)
XM_011541279.1:c.3400_3400+1del (C1orf167)
XM_011541280.1:c.2089_2089+1del (C1orf167)
XM_011541281.1:c.2089_2089+1del (C1orf167)
NM_001330358.1:c.*3188_*3189del (MTHFR)	NP_001317287.1:n.*3188_*3189del
XM_011541272.3:c.3808_3808+1del (C1orf167)
XM_011541276.3:c.3808_3808+1del (C1orf167)
XM_011541277.3:c.3808_3808+1del (C1orf167)
XM_011541278.2:c.3808_3808+1del (C1orf167)
XM_024446506.1:c.3808_3808+1del (C1orf167)
XM_024446507.1:c.3808_3808+1del (C1orf167)
XM_024446508.1:c.3808_3808+1del (C1orf167)
XM_024446509.1:c.3808_3808+1del (C1orf167)
XM_024446512.1:c.3754_3754+1del (C1orf167)
XM_024446514.1:c.3673_3673+1del (C1orf167)
XM_024446515.1:c.3673_3673+1del (C1orf167)
XM_024446517.1:c.3673_3673+1del (C1orf167)
XM_024446518.1:c.2089_2089+1del (C1orf167)
NM_001010881.2:c.3673_3673+1del (C1orf167)
NM_005957.5:c.*3188_*3189del (MTHFR) MANE Select	NP_005948.3:n.*3188_*3189del
NM_001330358.2:c.*3188_*3189del (MTHFR)	NP_001317287.1:n.*3188_*3189del