Canonical Allele Identifier: CA886038764
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs1343437837
gnomAD v3: 1-11790368-T-G
gnomAD v4: 1-11790368-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790368T>G , CM000663.2:g.11790368T>G GRCh38
NC_000001.10:g.11850425T>G , CM000663.1:g.11850425T>G GRCh37
NC_000001.9:g.11773012T>G NCBI36
NG_013351.1:g.20736A>C , LRG_726:g.20736A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.*312A>C ENSP00000365770.1:n.*312A>C
ENST00000376590.9:c.*312A>C MANE Select ENSP00000365775.3:n.*312A>C
ENST00000376592.6:c.*312A>C ENSP00000365777.1:n.*312A>C
ENST00000423400.7:c.*312A>C ENSP00000398908.3:n.*312A>C
ENST00000641407.1:c.*172A>C ENSP00000493098.1:n.*172A>C
ENST00000641446.1:c.*742A>C ENSP00000493262.1:n.*742A>C
ENST00000641747.1:c.*1795A>C ENSP00000493116.1:n.*1795A>C
ENST00000641805.1:n.2618A>C
ENST00000376583.7:c.2406A>C ENSP00000365767.3:n.2406A>C
ENST00000376585.5:c.*312A>C ENSP00000365770.1:n.*312A>C
ENST00000376590.7:c.*312A>C ENSP00000365775.3:n.*312A>C
ENST00000376592.5:c.*312A>C ENSP00000365777.1:n.*312A>C
NM_005957.4:c.*312A>C , LRG_726t1:c.*312A>C NP_005948.3:n.*312A>C
XM_005263458.2:c.*312A>C XP_005263515.1:n.*312A>C
XM_005263460.3:c.*312A>C XP_005263517.1:n.*312A>C
XM_005263461.3:c.*312A>C XP_005263518.1:n.*312A>C
XM_005263462.3:c.*312A>C XP_005263519.1:n.*312A>C
XM_005263463.2:c.*312A>C XP_005263520.1:n.*312A>C
XM_011541495.1:c.*312A>C XP_011539797.1:n.*312A>C
XM_011541496.1:c.*172A>C XP_011539798.1:n.*172A>C
NM_001330358.1:c.*312A>C NP_001317287.1:n.*312A>C
XM_005263460.5:c.*312A>C XP_005263517.1:n.*312A>C
XM_005263462.4:c.*312A>C XP_005263519.1:n.*312A>C
XM_005263463.4:c.*312A>C XP_005263520.1:n.*312A>C
XM_011541495.3:c.*312A>C XP_011539797.1:n.*312A>C
XM_011541496.3:c.*172A>C XP_011539798.1:n.*172A>C
XM_024447198.1:c.*312A>C XP_024302966.1:n.*312A>C
NM_005957.5:c.*312A>C MANE Select NP_005948.3:n.*312A>C
NM_001330358.2:c.*312A>C NP_001317287.1:n.*312A>C