Canonical Allele Identifier: CA998619123
Gene: MTHFR HGNC NCBI

Linked Data

dbSNP Id: rs1644048581
gnomAD v3: 1-11790266-T-C
gnomAD v4: 1-11790266-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.11790266T>C , CM000663.2:g.11790266T>C GRCh38
NC_000001.10:g.11850323T>C , CM000663.1:g.11850323T>C GRCh37
NC_000001.9:g.11772910T>C NCBI36
NG_013351.1:g.20838A>G , LRG_726:g.20838A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376585.6:c.*414A>G ENSP00000365770.1:n.*414A>G
ENST00000376590.9:c.*414A>G MANE Select ENSP00000365775.3:n.*414A>G
ENST00000376592.6:c.*414A>G ENSP00000365777.1:n.*414A>G
ENST00000423400.7:c.*414A>G ENSP00000398908.3:n.*414A>G
ENST00000641446.1:c.*844A>G ENSP00000493262.1:n.*844A>G
ENST00000641747.1:c.*1897A>G ENSP00000493116.1:n.*1897A>G
ENST00000641805.1:n.2720A>G
ENST00000376583.7:c.2508A>G ENSP00000365767.3:n.2508A>G
ENST00000376585.5:c.*414A>G ENSP00000365770.1:n.*414A>G
ENST00000376590.7:c.*414A>G ENSP00000365775.3:n.*414A>G
ENST00000376592.5:c.*414A>G ENSP00000365777.1:n.*414A>G
NM_005957.4:c.*414A>G , LRG_726t1:c.*414A>G NP_005948.3:n.*414A>G
XM_005263458.2:c.*414A>G XP_005263515.1:n.*414A>G
XM_005263460.3:c.*414A>G XP_005263517.1:n.*414A>G
XM_005263461.3:c.*414A>G XP_005263518.1:n.*414A>G
XM_005263462.3:c.*414A>G XP_005263519.1:n.*414A>G
XM_005263463.2:c.*414A>G XP_005263520.1:n.*414A>G
XM_011541495.1:c.*414A>G XP_011539797.1:n.*414A>G
XM_011541496.1:c.*274A>G XP_011539798.1:n.*274A>G
NM_001330358.1:c.*414A>G NP_001317287.1:n.*414A>G
XM_005263460.5:c.*414A>G XP_005263517.1:n.*414A>G
XM_005263462.4:c.*414A>G XP_005263519.1:n.*414A>G
XM_005263463.4:c.*414A>G XP_005263520.1:n.*414A>G
XM_011541495.3:c.*414A>G XP_011539797.1:n.*414A>G
XM_011541496.3:c.*274A>G XP_011539798.1:n.*274A>G
XM_024447198.1:c.*414A>G XP_024302966.1:n.*414A>G
NM_005957.5:c.*414A>G MANE Select NP_005948.3:n.*414A>G
NM_001330358.2:c.*414A>G NP_001317287.1:n.*414A>G