Canonical Allele Identifier: CA1153789379
Gene: MTHFR HGNC NCBI
C1orf167 HGNC NCBI

Linked Data

dbSNP Id: rs1644033281

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11789890C>G , CM000663.2:g.11789890C>G GRCh38
NC_000001.10:g.11849947C>G , CM000663.1:g.11849947C>G GRCh37
NC_000001.9:g.11772534C>G NCBI36
NG_013351.1:g.21214G>C , LRG_726:g.21214G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.*790G>C (MTHFR) ENSP00000365770.1:n.*790G>C
ENST00000376590.9:c.*790G>C (MTHFR) MANE Select ENSP00000365775.3:n.*790G>C
ENST00000376592.6:c.*790G>C (MTHFR) ENSP00000365777.1:n.*790G>C
ENST00000641747.1:c.*2273G>C (MTHFR) ENSP00000493116.1:n.*2273G>C
ENST00000376583.7:c.2884G>C (MTHFR) ENSP00000365767.3:n.2884G>C
ENST00000376585.5:c.*790G>C (MTHFR) ENSP00000365770.1:n.*790G>C
ENST00000376590.7:c.*790G>C (MTHFR) ENSP00000365775.3:n.*790G>C
ENST00000376592.5:c.*790G>C (MTHFR) ENSP00000365777.1:n.*790G>C
NM_005957.4:c.*790G>C , LRG_726t1:c.*790G>C (MTHFR) NP_005948.3:n.*790G>C
XM_005263458.2:c.*790G>C (MTHFR) XP_005263515.1:n.*790G>C
XM_005263460.3:c.*790G>C (MTHFR) XP_005263517.1:n.*790G>C
XM_005263461.3:c.*790G>C (MTHFR) XP_005263518.1:n.*790G>C
XM_005263462.3:c.*790G>C (MTHFR) XP_005263519.1:n.*790G>C
XM_005263463.2:c.*790G>C (MTHFR) XP_005263520.1:n.*790G>C
XM_011541495.1:c.*790G>C (MTHFR) XP_011539797.1:n.*790G>C
XM_011541496.1:c.*650G>C (MTHFR) XP_011539798.1:n.*650G>C
NM_001330358.1:c.*790G>C (MTHFR) NP_001317287.1:n.*790G>C
XM_011541272.3:c.*444C>G (C1orf167) XP_011539574.1:n.*444C>G
XM_011541276.3:c.*431C>G (C1orf167) XP_011539578.1:n.*431C>G
XM_011541277.3:c.*444C>G (C1orf167) XP_011539579.1:n.*444C>G
XM_024446506.1:c.*847C>G (C1orf167) XP_024302274.1:n.*847C>G
XM_024446507.1:c.*847C>G (C1orf167) XP_024302275.1:n.*847C>G
XM_024446508.1:c.*847C>G (C1orf167) XP_024302276.1:n.*847C>G
XM_024446509.1:c.*847C>G (C1orf167) XP_024302277.1:n.*847C>G
XM_024446512.1:c.*847C>G (C1orf167) XP_024302280.1:n.*847C>G
XM_024446514.1:c.*847C>G (C1orf167) XP_024302282.1:n.*847C>G
XM_024446515.1:c.*847C>G (C1orf167) XP_024302283.1:n.*847C>G
XM_024446517.1:c.*847C>G (C1orf167) XP_024302285.1:n.*847C>G
XM_024446518.1:c.*847C>G (C1orf167) XP_024302286.1:n.*847C>G
NM_005957.5:c.*790G>C (MTHFR) MANE Select NP_005948.3:n.*790G>C
NM_001330358.2:c.*790G>C (MTHFR) NP_001317287.1:n.*790G>C