Canonical Allele Identifier: CA595765
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 504083
dbSNP Id: rs776734688
gnomAD v2: 1-11863173-T-C
gnomAD v4: 1-11803116-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11803116T>C , CM000663.2:g.11803116T>C GRCh38
NC_000001.10:g.11863173T>C , CM000663.1:g.11863173T>C GRCh37
NC_000001.9:g.11785760T>C NCBI36
NG_008766.1:g.1967T>C
NG_013351.1:g.7988A>G , LRG_726:g.7988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376486.3:c.1A>G ENSP00000365669.3:p.Met1Val
ENST00000376585.6:c.124A>G ENSP00000365770.1:p.Met42Val
ENST00000376590.9:c.1A>G MANE Select ENSP00000365775.3:p.Met1Val
ENST00000376592.6:c.1A>G ENSP00000365777.1:p.Met1Val
ENST00000423400.7:c.121A>G ENSP00000398908.3:p.Met41Val
ENST00000431243.6:n.782A>G
ENST00000641407.1:c.1A>G ENSP00000493098.1:p.Met1Val
ENST00000641437.1:n.133A>G
ENST00000641446.1:c.1A>G ENSP00000493262.1:p.Met1Val
ENST00000641721.1:n.58A>G
ENST00000641747.1:c.1A>G ENSP00000493116.1:p.Met1Val
ENST00000641759.1:n.136A>G
ENST00000641805.1:n.284A>G
ENST00000641909.1:n.411A>G
ENST00000642002.1:n.230A>G
ENST00000376486.2:c.1A>G ENSP00000365669.2:p.Met1Val
ENST00000376583.7:c.124A>G ENSP00000365767.3:p.Met42Val
ENST00000376585.5:c.124A>G ENSP00000365770.1:p.Met42Val
ENST00000376590.7:c.1A>G ENSP00000365775.3:p.Met1Val
ENST00000376592.5:c.1A>G ENSP00000365777.1:p.Met1Val
ENST00000413656.5:c.1A>G ENSP00000408307.1:p.Met1Val
ENST00000418034.1:c.1A>G ENSP00000405082.1:p.Met1Val
ENST00000423400.5:c.70A>G ENSP00000398908.1:p.Met24Val
ENST00000431243.5:c.1A>G ENSP00000400460.1:p.Met1Val
NM_005957.4:c.1A>G , LRG_726t1:c.1A>G NP_005948.3:p.Met1Val
XM_005263458.2:c.124A>G XP_005263515.1:p.Met42Val
XM_005263460.3:c.1A>G XP_005263517.1:p.Met1Val
XM_005263461.3:c.1A>G XP_005263518.1:p.Met1Val
XM_005263462.3:c.1A>G XP_005263519.1:p.Met1Val
XM_005263463.2:c.-263A>G XP_005263520.1:n.-263A>G
XM_011541495.1:c.121A>G XP_011539797.1:p.Met41Val
XM_011541496.1:c.124A>G XP_011539798.1:p.Met42Val
NM_001330358.1:c.124A>G NP_001317287.1:p.Met42Val
XM_005263460.5:c.1A>G XP_005263517.1:p.Met1Val
XM_005263462.4:c.1A>G XP_005263519.1:p.Met1Val
XM_005263463.4:c.-263A>G XP_005263520.1:n.-263A>G
XM_011541495.3:c.121A>G XP_011539797.1:p.Met41Val
XM_011541496.3:c.124A>G XP_011539798.1:p.Met42Val
XM_017001328.2:c.124A>G XP_016856817.1:p.Met42Val
XM_024447198.1:c.-263A>G XP_024302966.1:n.-263A>G
XR_002956640.1:n.868A>G
NM_005957.5:c.1A>G MANE Select NP_005948.3:p.Met1Val
NM_001330358.2:c.124A>G NP_001317287.1:p.Met42Val