Canonical Allele Identifier: CA17998733

Gene: MTHFR

Linked Data

• dbSNP Id: rs545595795
• gnomAD v3: 1-11790342-A-C
• gnomAD v4: 1-11790342-A-C
• MyVariant Identifiers: chr1:g.11850399A>C (hg19) ; chr1:g.11790342A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790342A>C , CM000663.2:g.11790342A>C	GRCh38
NC_000001.10:g.11850399A>C , CM000663.1:g.11850399A>C	GRCh37
NC_000001.9:g.11772986A>C	NCBI36
NG_013351.1:g.20762T>G , LRG_726:g.20762T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*338T>G	ENSP00000365770.1:n.*338T>G
ENST00000376590.9:c.*338T>G MANE Select	ENSP00000365775.3:n.*338T>G
ENST00000376592.6:c.*338T>G	ENSP00000365777.1:n.*338T>G
ENST00000423400.7:c.*338T>G	ENSP00000398908.3:n.*338T>G
ENST00000641446.1:c.*768T>G	ENSP00000493262.1:n.*768T>G
ENST00000641747.1:c.*1821T>G	ENSP00000493116.1:n.*1821T>G
ENST00000641805.1:n.2644T>G
ENST00000376583.7:c.2432T>G	ENSP00000365767.3:n.2432T>G
ENST00000376585.5:c.*338T>G	ENSP00000365770.1:n.*338T>G
ENST00000376590.7:c.*338T>G	ENSP00000365775.3:n.*338T>G
ENST00000376592.5:c.*338T>G	ENSP00000365777.1:n.*338T>G
NM_005957.4:c.*338T>G , LRG_726t1:c.*338T>G	NP_005948.3:n.*338T>G
XM_005263458.2:c.*338T>G	XP_005263515.1:n.*338T>G
XM_005263460.3:c.*338T>G	XP_005263517.1:n.*338T>G
XM_005263461.3:c.*338T>G	XP_005263518.1:n.*338T>G
XM_005263462.3:c.*338T>G	XP_005263519.1:n.*338T>G
XM_005263463.2:c.*338T>G	XP_005263520.1:n.*338T>G
XM_011541495.1:c.*338T>G	XP_011539797.1:n.*338T>G
XM_011541496.1:c.*198T>G	XP_011539798.1:n.*198T>G
NM_001330358.1:c.*338T>G	NP_001317287.1:n.*338T>G
XM_005263460.5:c.*338T>G	XP_005263517.1:n.*338T>G
XM_005263462.4:c.*338T>G	XP_005263519.1:n.*338T>G
XM_005263463.4:c.*338T>G	XP_005263520.1:n.*338T>G
XM_011541495.3:c.*338T>G	XP_011539797.1:n.*338T>G
XM_011541496.3:c.*198T>G	XP_011539798.1:n.*198T>G
XM_024447198.1:c.*338T>G	XP_024302966.1:n.*338T>G
NM_005957.5:c.*338T>G MANE Select	NP_005948.3:n.*338T>G
NM_001330358.2:c.*338T>G	NP_001317287.1:n.*338T>G