Canonical Allele Identifier: CA10607890
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 292223
ClinVar RCV Id: RCV001523551
dbSNP Id: rs4846049

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790308T>G , CM000663.2:g.11790308T>G GRCh38
NC_000001.10:g.11850365T>G , CM000663.1:g.11850365T>G GRCh37
NC_000001.9:g.11772952T>G NCBI36
NG_013351.1:g.20796A>C , LRG_726:g.20796A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.*372A>C ENSP00000365770.1:n.*372A>C
ENST00000376590.9:c.*372A>C MANE Select ENSP00000365775.3:n.*372A>C
ENST00000376592.6:c.*372A>C ENSP00000365777.1:n.*372A>C
ENST00000423400.7:c.*372A>C ENSP00000398908.3:n.*372A>C
ENST00000641446.1:c.*802A>C ENSP00000493262.1:n.*802A>C
ENST00000641747.1:c.*1855A>C ENSP00000493116.1:n.*1855A>C
ENST00000641805.1:n.2678A>C
ENST00000376583.7:n.2466A>C ENSP00000365767.3:n.2466A>C
ENST00000376585.5:c.*372A>C ENSP00000365770.1:n.*372A>C
ENST00000376590.7:c.*372A>C ENSP00000365775.3:n.*372A>C
ENST00000376592.5:c.*372A>C ENSP00000365777.1:n.*372A>C
NM_005957.4:c.*372A>C , LRG_726t1:c.*372A>C NP_005948.3:n.*372A>C
XM_005263458.2:c.*372A>C XP_005263515.1:n.*372A>C
XM_005263460.3:c.*372A>C XP_005263517.1:n.*372A>C
XM_005263461.3:c.*372A>C XP_005263518.1:n.*372A>C
XM_005263462.3:c.*372A>C XP_005263519.1:n.*372A>C
XM_005263463.2:c.*372A>C XP_005263520.1:n.*372A>C
XM_011541495.1:c.*372A>C XP_011539797.1:n.*372A>C
XM_011541496.1:c.*232A>C XP_011539798.1:n.*232A>C
NM_001330358.1:c.*372A>C NP_001317287.1:n.*372A>C
XM_005263460.5:c.*372A>C XP_005263517.1:n.*372A>C
XM_005263462.4:c.*372A>C XP_005263519.1:n.*372A>C
XM_005263463.4:c.*372A>C XP_005263520.1:n.*372A>C
XM_011541495.3:c.*372A>C XP_011539797.1:n.*372A>C
XM_011541496.3:c.*232A>C XP_011539798.1:n.*232A>C
XM_024447198.1:c.*372A>C XP_024302966.1:n.*372A>C
NM_005957.5:c.*372A>C MANE Select NP_005948.3:n.*372A>C
NM_001330358.2:c.*372A>C NP_001317287.1:n.*372A>C