Canonical Allele Identifier: CA595062
Gene: C1orf167 HGNC NCBI
MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs1537514
gnomAD v2: 1-11848068-G-C
gnomAD v3: 1-11788011-G-C
gnomAD v4: 1-11788011-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11788011G>C , CM000663.2:g.11788011G>C GRCh38
NC_000001.10:g.11848068G>C , CM000663.1:g.11848068G>C GRCh37
NC_000001.9:g.11770655G>C NCBI36
NG_013351.1:g.23093C>G , LRG_726:g.23093C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000433342.6:c.3326G>C (C1orf167) ENSP00000414909.3:p.Cys1109Ser
ENST00000688073.1:c.3812G>C (C1orf167) MANE Select ENSP00000510540.1:p.Cys1271Ser
ENST00000376585.6:c.*2669C>G (MTHFR) ENSP00000365770.1:n.*2669C>G
ENST00000376590.9:c.*2669C>G (MTHFR) MANE Select ENSP00000365775.3:n.*2669C>G
ENST00000376592.6:c.*2669C>G (MTHFR) ENSP00000365777.1:n.*2669C>G
ENST00000312793.9:c.1962G>C (C1orf167)
ENST00000376583.7:c.4763C>G (MTHFR) ENSP00000365767.3:n.4763C>G
ENST00000376590.7:c.*2669C>G (MTHFR) ENSP00000365775.3:n.*2669C>G
ENST00000376592.5:c.*2669C>G (MTHFR) ENSP00000365777.1:n.*2669C>G
ENST00000433342.5:c.3884G>C (C1orf167) ENSP00000414909.2:p.Cys1295Ser
ENST00000444493.5:c.1311G>C (C1orf167)
ENST00000449278.1:c.1141G>C (C1orf167)
ENST00000482358.1:n.200G>C (C1orf167)
NM_001010881.1:c.3812G>C (C1orf167) NP_001010881.1:p.Cys1271Ser
NM_005957.4:c.*2669C>G , LRG_726t1:c.*2669C>G (MTHFR) NP_005948.3:n.*2669C>G
XM_006711078.2:c.3812G>C (C1orf167) XP_006711141.1:p.Cys1271Ser
XM_011541267.1:c.3947G>C (C1orf167) XP_011539569.1:p.Cys1316Ser
XM_011541268.1:c.3947G>C (C1orf167) XP_011539570.1:p.Cys1316Ser
XM_011541269.1:c.3947G>C (C1orf167) XP_011539571.1:p.Cys1316Ser
XM_011541270.1:c.3947G>C (C1orf167) XP_011539572.1:p.Cys1316Ser
XM_011541271.1:c.3893G>C (C1orf167) XP_011539573.1:p.Cys1298Ser
XM_011541272.1:c.3947G>C (C1orf167) XP_011539574.1:p.Cys1316Ser
XM_011541273.1:c.3812G>C (C1orf167) XP_011539575.1:p.Cys1271Ser
XM_011541274.1:c.3812G>C (C1orf167) XP_011539576.1:p.Cys1271Ser
XM_011541275.1:c.3812G>C (C1orf167) XP_011539577.1:p.Cys1271Ser
XM_011541276.1:c.3947G>C (C1orf167) XP_011539578.1:p.Cys1316Ser
XM_011541277.1:c.3947G>C (C1orf167) XP_011539579.1:p.Cys1316Ser
XM_011541278.1:c.3947G>C (C1orf167) XP_011539580.1:p.Cys1316Ser
XM_011541279.1:c.3539G>C (C1orf167) XP_011539581.1:p.Cys1180Ser
XM_011541280.1:c.2228G>C (C1orf167) XP_011539582.1:p.Cys743Ser
XM_011541281.1:c.2228G>C (C1orf167) XP_011539583.1:p.Cys743Ser
NM_001330358.1:c.*2669C>G (MTHFR) NP_001317287.1:n.*2669C>G
XM_011541272.3:c.3947G>C (C1orf167) XP_011539574.1:p.Cys1316Ser
XM_011541276.3:c.3947G>C (C1orf167) XP_011539578.1:p.Cys1316Ser
XM_011541277.3:c.3947G>C (C1orf167) XP_011539579.1:p.Cys1316Ser
XM_011541278.2:c.3947G>C (C1orf167) XP_011539580.1:p.Cys1316Ser
XM_024446506.1:c.3947G>C (C1orf167) XP_024302274.1:p.Cys1316Ser
XM_024446507.1:c.3947G>C (C1orf167) XP_024302275.1:p.Cys1316Ser
XM_024446508.1:c.3947G>C (C1orf167) XP_024302276.1:p.Cys1316Ser
XM_024446509.1:c.3947G>C (C1orf167) XP_024302277.1:p.Cys1316Ser
XM_024446512.1:c.3893G>C (C1orf167) XP_024302280.1:p.Cys1298Ser
XM_024446514.1:c.3812G>C (C1orf167) XP_024302282.1:p.Cys1271Ser
XM_024446515.1:c.3812G>C (C1orf167) XP_024302283.1:p.Cys1271Ser
XM_024446517.1:c.3812G>C (C1orf167) XP_024302285.1:p.Cys1271Ser
XM_024446518.1:c.2228G>C (C1orf167) XP_024302286.1:p.Cys743Ser
NM_001010881.2:c.3812G>C (C1orf167) MANE Select NP_001010881.1:p.Cys1271Ser
NM_005957.5:c.*2669C>G (MTHFR) MANE Select NP_005948.3:n.*2669C>G
NM_001330358.2:c.*2669C>G (MTHFR) NP_001317287.1:n.*2669C>G