Canonical Allele Identifier: CA10607836

Gene: C1orf167 MTHFR

Linked Data

• ClinVar Variation Id: 292196
• ClinVar RCV Id: RCV000345123
• dbSNP Id: rs886045180
• gnomAD v4: 1-11788203-CCTT-C
• MyVariant Identifiers: chr1:g.11848261_11848263del (hg19) ; chr1:g.11788204_11788206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11788206_11788208del , CM000663.2:g.11788206_11788208del	GRCh38
NC_000001.10:g.11848263_11848265del , CM000663.1:g.11848263_11848265del	GRCh37
NC_000001.9:g.11770850_11770852del	NCBI36
NG_013351.1:g.22898_22900del , LRG_726:g.22898_22900del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433342.6:c.3405_3407del (C1orf167)	ENSP00000414909.3:p.Leu1136del
ENST00000688073.1:c.3906_3908del (C1orf167) MANE Select	ENSP00000510540.1:p.Leu1303del
ENST00000376585.6:c.*2474_*2476del (MTHFR)	ENSP00000365770.1:n.*2474_*2476del
ENST00000376590.9:c.*2474_*2476del (MTHFR) MANE Select	ENSP00000365775.3:n.*2474_*2476del
ENST00000376592.6:c.*2474_*2476del (MTHFR)	ENSP00000365777.1:n.*2474_*2476del
ENST00000312793.9:c.2041_2043del (C1orf167)
ENST00000376583.7:c.4568_4570del (MTHFR)	ENSP00000365767.3:n.4568_4570del
ENST00000376590.7:c.*2474_*2476del (MTHFR)	ENSP00000365775.3:n.*2474_*2476del
ENST00000376592.5:c.*2474_*2476del (MTHFR)	ENSP00000365777.1:n.*2474_*2476del
ENST00000433342.5:c.3963_3965del (C1orf167)	ENSP00000414909.2:p.Leu1322del
ENST00000444493.5:c.1405_1407del (C1orf167)
ENST00000449278.1:c.1178-37_1178-35del (C1orf167)
ENST00000482358.1:n.237-37_237-35del (C1orf167)
NM_001010881.1:c.3906_3908del (C1orf167)	NP_001010881.1:p.Leu1303del
NM_005957.4:c.*2474_*2476del , LRG_726t1:c.*2474_*2476del (MTHFR)	NP_005948.3:n.*2474_*2476del
XM_006711078.2:c.3906_3908del (C1orf167)	XP_006711141.1:p.Leu1303del
XM_011541267.1:c.4041_4043del (C1orf167)	XP_011539569.1:p.Leu1348del
XM_011541268.1:c.4041_4043del (C1orf167)	XP_011539570.1:p.Leu1348del
XM_011541269.1:c.4041_4043del (C1orf167)	XP_011539571.1:p.Leu1348del
XM_011541270.1:c.4041_4043del (C1orf167)	XP_011539572.1:p.Leu1348del
XM_011541271.1:c.3987_3989del (C1orf167)	XP_011539573.1:p.Leu1330del
XM_011541272.1:c.4041_4043del (C1orf167)	XP_011539574.1:p.Leu1348del
XM_011541273.1:c.3906_3908del (C1orf167)	XP_011539575.1:p.Leu1303del
XM_011541274.1:c.3906_3908del (C1orf167)	XP_011539576.1:p.Leu1303del
XM_011541275.1:c.3906_3908del (C1orf167)	XP_011539577.1:p.Leu1303del
XM_011541276.1:c.3984-37_3984-35del (C1orf167)	XP_011539578.1:n.3984-37_3984-35del
XM_011541277.1:c.3984-37_3984-35del (C1orf167)	XP_011539579.1:n.3984-37_3984-35del
XM_011541278.1:c.4041_4043del (C1orf167)	XP_011539580.1:p.Leu1348del
XM_011541279.1:c.3633_3635del (C1orf167)	XP_011539581.1:p.Leu1212del
XM_011541280.1:c.2322_2324del (C1orf167)	XP_011539582.1:p.Leu775del
XM_011541281.1:c.2322_2324del (C1orf167)	XP_011539583.1:p.Leu775del
NM_001330358.1:c.*2474_*2476del (MTHFR)	NP_001317287.1:n.*2474_*2476del
XM_011541272.3:c.4041_4043del (C1orf167)	XP_011539574.1:p.Leu1348del
XM_011541276.3:c.3984-37_3984-35del (C1orf167)	XP_011539578.1:n.3984-37_3984-35del
XM_011541277.3:c.3984-37_3984-35del (C1orf167)	XP_011539579.1:n.3984-37_3984-35del
XM_011541278.2:c.4041_4043del (C1orf167)	XP_011539580.1:p.Leu1348del
XM_024446506.1:c.4041_4043del (C1orf167)	XP_024302274.1:p.Leu1348del
XM_024446507.1:c.4041_4043del (C1orf167)	XP_024302275.1:p.Leu1348del
XM_024446508.1:c.4041_4043del (C1orf167)	XP_024302276.1:p.Leu1348del
XM_024446509.1:c.4041_4043del (C1orf167)	XP_024302277.1:p.Leu1348del
XM_024446512.1:c.3987_3989del (C1orf167)	XP_024302280.1:p.Leu1330del
XM_024446514.1:c.3906_3908del (C1orf167)	XP_024302282.1:p.Leu1303del
XM_024446515.1:c.3906_3908del (C1orf167)	XP_024302283.1:p.Leu1303del
XM_024446517.1:c.3906_3908del (C1orf167)	XP_024302285.1:p.Leu1303del
XM_024446518.1:c.2322_2324del (C1orf167)	XP_024302286.1:p.Leu775del
NM_001010881.2:c.3906_3908del (C1orf167) MANE Select	NP_001010881.1:p.Leu1303del
NM_005957.5:c.*2474_*2476del (MTHFR) MANE Select	NP_005948.3:n.*2474_*2476del
NM_001330358.2:c.*2474_*2476del (MTHFR)	NP_001317287.1:n.*2474_*2476del