Canonical Allele Identifier: CA886035839
Gene: C1orf167 HGNC NCBI
MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs1298665760
gnomAD v3: 1-11787723-T-TGG
gnomAD v4: 1-11787723-T-TGG
MyVariant Identifiers: chr1:g.11847780_11847781insGG (hg19) chr1:g.11787723_11787724insGG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11787724_11787725dup , CM000663.2:g.11787724_11787725dup GRCh38
NC_000001.10:g.11847781_11847782dup , CM000663.1:g.11847781_11847782dup GRCh37
NC_000001.9:g.11770368_11770369dup NCBI36
NG_013351.1:g.23379_23380dup , LRG_726:g.23379_23380dup

Transcript Alleles

HGVS Amino-acid change
ENST00000433342.6:c.3188-149_3188-148dup (C1orf167) ENSP00000414909.3:n.3188-149_3188-148dup
ENST00000688073.1:c.3674-149_3674-148dup (C1orf167) MANE Select ENSP00000510540.1:n.3674-149_3674-148dup
ENST00000376585.6:c.*2955_*2956dup (MTHFR) ENSP00000365770.1:n.*2955_*2956dup
ENST00000376590.9:c.*2955_*2956dup (MTHFR) MANE Select ENSP00000365775.3:n.*2955_*2956dup
ENST00000376592.6:c.*2955_*2956dup (MTHFR) ENSP00000365777.1:n.*2955_*2956dup
ENST00000312793.9:c.1824-149_1824-148dup (C1orf167)
ENST00000376583.7:c.5049_5050dup (MTHFR) ENSP00000365767.3:n.5049_5050dup
ENST00000376590.7:c.*2955_*2956dup (MTHFR) ENSP00000365775.3:n.*2955_*2956dup
ENST00000376592.5:c.*2955_*2956dup (MTHFR) ENSP00000365777.1:n.*2955_*2956dup
ENST00000433342.5:c.3746-149_3746-148dup (C1orf167) ENSP00000414909.2:n.3746-149_3746-148dup
ENST00000444493.5:c.1173-149_1173-148dup (C1orf167)
ENST00000449278.1:c.1003-149_1003-148dup (C1orf167)
ENST00000475041.1:n.456_457dup (C1orf167)
NM_001010881.1:c.3674-149_3674-148dup (C1orf167) NP_001010881.1:n.3674-149_3674-148dup
NM_005957.4:c.*2955_*2956dup , LRG_726t1:c.*2955_*2956dup (MTHFR) NP_005948.3:n.*2955_*2956dup
XM_006711078.2:c.3674-149_3674-148dup (C1orf167) XP_006711141.1:n.3674-149_3674-148dup
XM_011541267.1:c.3809-149_3809-148dup (C1orf167) XP_011539569.1:n.3809-149_3809-148dup
XM_011541268.1:c.3809-149_3809-148dup (C1orf167) XP_011539570.1:n.3809-149_3809-148dup
XM_011541269.1:c.3809-149_3809-148dup (C1orf167) XP_011539571.1:n.3809-149_3809-148dup
XM_011541270.1:c.3809-149_3809-148dup (C1orf167) XP_011539572.1:n.3809-149_3809-148dup
XM_011541271.1:c.3755-149_3755-148dup (C1orf167) XP_011539573.1:n.3755-149_3755-148dup
XM_011541272.1:c.3809-149_3809-148dup (C1orf167) XP_011539574.1:n.3809-149_3809-148dup
XM_011541273.1:c.3674-149_3674-148dup (C1orf167) XP_011539575.1:n.3674-149_3674-148dup
XM_011541274.1:c.3674-149_3674-148dup (C1orf167) XP_011539576.1:n.3674-149_3674-148dup
XM_011541275.1:c.3674-149_3674-148dup (C1orf167) XP_011539577.1:n.3674-149_3674-148dup
XM_011541276.1:c.3809-149_3809-148dup (C1orf167) XP_011539578.1:n.3809-149_3809-148dup
XM_011541277.1:c.3809-149_3809-148dup (C1orf167) XP_011539579.1:n.3809-149_3809-148dup
XM_011541278.1:c.3809-149_3809-148dup (C1orf167) XP_011539580.1:n.3809-149_3809-148dup
XM_011541279.1:c.3401-149_3401-148dup (C1orf167) XP_011539581.1:n.3401-149_3401-148dup
XM_011541280.1:c.2090-149_2090-148dup (C1orf167) XP_011539582.1:n.2090-149_2090-148dup
XM_011541281.1:c.2090-149_2090-148dup (C1orf167) XP_011539583.1:n.2090-149_2090-148dup
NM_001330358.1:c.*2955_*2956dup (MTHFR) NP_001317287.1:n.*2955_*2956dup
XM_011541272.3:c.3809-149_3809-148dup (C1orf167) XP_011539574.1:n.3809-149_3809-148dup
XM_011541276.3:c.3809-149_3809-148dup (C1orf167) XP_011539578.1:n.3809-149_3809-148dup
XM_011541277.3:c.3809-149_3809-148dup (C1orf167) XP_011539579.1:n.3809-149_3809-148dup
XM_011541278.2:c.3809-149_3809-148dup (C1orf167) XP_011539580.1:n.3809-149_3809-148dup
XM_024446506.1:c.3809-149_3809-148dup (C1orf167) XP_024302274.1:n.3809-149_3809-148dup
XM_024446507.1:c.3809-149_3809-148dup (C1orf167) XP_024302275.1:n.3809-149_3809-148dup
XM_024446508.1:c.3809-149_3809-148dup (C1orf167) XP_024302276.1:n.3809-149_3809-148dup
XM_024446509.1:c.3809-149_3809-148dup (C1orf167) XP_024302277.1:n.3809-149_3809-148dup
XM_024446512.1:c.3755-149_3755-148dup (C1orf167) XP_024302280.1:n.3755-149_3755-148dup
XM_024446514.1:c.3674-149_3674-148dup (C1orf167) XP_024302282.1:n.3674-149_3674-148dup
XM_024446515.1:c.3674-149_3674-148dup (C1orf167) XP_024302283.1:n.3674-149_3674-148dup
XM_024446517.1:c.3674-149_3674-148dup (C1orf167) XP_024302285.1:n.3674-149_3674-148dup
XM_024446518.1:c.2090-149_2090-148dup (C1orf167) XP_024302286.1:n.2090-149_2090-148dup
NM_001010881.2:c.3674-149_3674-148dup (C1orf167) MANE Select NP_001010881.1:n.3674-149_3674-148dup
NM_005957.5:c.*2955_*2956dup (MTHFR) MANE Select NP_005948.3:n.*2955_*2956dup
NM_001330358.2:c.*2955_*2956dup (MTHFR) NP_001317287.1:n.*2955_*2956dup
Search 100 bp 5'
Search 100 bp 3'