Canonical Allele Identifier: CA278061
Gene: MTHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 3529
dbSNP Id: rs121434297
gnomAD v2: 1-11855218-A-G
gnomAD v3: 1-11795161-A-G
gnomAD v4: 1-11795161-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11795161A>G , CM000663.2:g.11795161A>G GRCh38
NC_000001.10:g.11855218A>G , CM000663.1:g.11855218A>G GRCh37
NC_000001.9:g.11777805A>G NCBI36
NG_013351.1:g.15943T>C , LRG_726:g.15943T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000376585.6:c.1091T>C ENSP00000365770.1:p.Leu364Pro
ENST00000376590.9:c.968T>C MANE Select ENSP00000365775.3:p.Leu323Pro
ENST00000376592.6:c.968T>C ENSP00000365777.1:p.Leu323Pro
ENST00000423400.7:c.1088T>C ENSP00000398908.3:p.Leu363Pro
ENST00000641407.1:c.968T>C ENSP00000493098.1:p.Leu323Pro
ENST00000641446.1:c.968T>C ENSP00000493262.1:p.Leu323Pro
ENST00000641721.1:n.831T>C
ENST00000641747.1:c.*480T>C ENSP00000493116.1:n.*480T>C
ENST00000641759.1:n.1103T>C
ENST00000641805.1:n.1251T>C
ENST00000641820.1:c.233T>C ENSP00000492937.1:p.Leu78Pro
ENST00000376583.7:c.1091T>C ENSP00000365767.3:p.Leu364Pro
ENST00000376585.5:c.1091T>C ENSP00000365770.1:p.Leu364Pro
ENST00000376590.7:c.968T>C ENSP00000365775.3:p.Leu323Pro
ENST00000376592.5:c.968T>C ENSP00000365777.1:p.Leu323Pro
NM_005957.4:c.968T>C , LRG_726t1:c.968T>C NP_005948.3:p.Leu323Pro
XM_005263458.2:c.1091T>C XP_005263515.1:p.Leu364Pro
XM_005263460.3:c.968T>C XP_005263517.1:p.Leu323Pro
XM_005263461.3:c.968T>C XP_005263518.1:p.Leu323Pro
XM_005263462.3:c.968T>C XP_005263519.1:p.Leu323Pro
XM_005263463.2:c.722T>C XP_005263520.1:p.Leu241Pro
XM_011541495.1:c.1088T>C XP_011539797.1:p.Leu363Pro
XM_011541496.1:c.1091T>C XP_011539798.1:p.Leu364Pro
NM_001330358.1:c.1091T>C NP_001317287.1:p.Leu364Pro
XM_005263460.5:c.968T>C XP_005263517.1:p.Leu323Pro
XM_005263462.4:c.968T>C XP_005263519.1:p.Leu323Pro
XM_005263463.4:c.722T>C XP_005263520.1:p.Leu241Pro
XM_011541495.3:c.1088T>C XP_011539797.1:p.Leu363Pro
XM_011541496.3:c.1091T>C XP_011539798.1:p.Leu364Pro
XM_017001328.2:c.1091T>C XP_016856817.1:p.Leu364Pro
XM_024447198.1:c.722T>C XP_024302966.1:p.Leu241Pro
XR_002956640.1:n.1835T>C
NM_005957.5:c.968T>C MANE Select NP_005948.3:p.Leu323Pro
NM_001330358.2:c.1091T>C NP_001317287.1:p.Leu364Pro