Canonical Allele Identifier: CA595133

Gene: MTHFR

Linked Data

• dbSNP Id: rs778011870
• ExAC: 1:11850713 A / G
• gnomAD v2: 1-11850713-A-G
• gnomAD v3: 1-11790656-A-G
• gnomAD v4: 1-11790656-A-G
• MyVariant Identifiers: chr1:g.11850713A>G (hg19) ; chr1:g.11790656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790656A>G , CM000663.2:g.11790656A>G	GRCh38
NC_000001.10:g.11850713A>G , CM000663.1:g.11850713A>G	GRCh37
NC_000001.9:g.11773300A>G	NCBI36
NG_013351.1:g.20448T>C , LRG_726:g.20448T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*24T>C	ENSP00000365770.1:n.*24T>C
ENST00000376590.9:c.*24T>C MANE Select	ENSP00000365775.3:n.*24T>C
ENST00000376592.6:c.*24T>C	ENSP00000365777.1:n.*24T>C
ENST00000423400.7:c.*24T>C	ENSP00000398908.3:n.*24T>C
ENST00000641407.1:c.1813T>C	ENSP00000493098.1:p.Trp605Arg
ENST00000641446.1:c.*454T>C	ENSP00000493262.1:n.*454T>C
ENST00000641747.1:c.*1507T>C	ENSP00000493116.1:n.*1507T>C
ENST00000641759.1:n.2364T>C
ENST00000641805.1:n.2330T>C
ENST00000641820.1:c.*24T>C	ENSP00000492937.1:n.*24T>C
ENST00000376583.7:c.2118T>C	ENSP00000365767.3:n.2118T>C
ENST00000376585.5:c.*24T>C	ENSP00000365770.1:n.*24T>C
ENST00000376590.7:c.*24T>C	ENSP00000365775.3:n.*24T>C
ENST00000376592.5:c.*24T>C	ENSP00000365777.1:n.*24T>C
NM_005957.4:c.*24T>C , LRG_726t1:c.*24T>C	NP_005948.3:n.*24T>C
XM_005263458.2:c.*24T>C	XP_005263515.1:n.*24T>C
XM_005263460.3:c.*24T>C	XP_005263517.1:n.*24T>C
XM_005263461.3:c.*24T>C	XP_005263518.1:n.*24T>C
XM_005263462.3:c.*24T>C	XP_005263519.1:n.*24T>C
XM_005263463.2:c.*24T>C	XP_005263520.1:n.*24T>C
XM_011541495.1:c.*24T>C	XP_011539797.1:n.*24T>C
XM_011541496.1:c.1936T>C	XP_011539798.1:p.Trp646Arg
NM_001330358.1:c.*24T>C	NP_001317287.1:n.*24T>C
XM_005263460.5:c.*24T>C	XP_005263517.1:n.*24T>C
XM_005263462.4:c.*24T>C	XP_005263519.1:n.*24T>C
XM_005263463.4:c.*24T>C	XP_005263520.1:n.*24T>C
XM_011541495.3:c.*24T>C	XP_011539797.1:n.*24T>C
XM_011541496.3:c.1936T>C	XP_011539798.1:p.Trp646Arg
XM_017001328.2:c.*24T>C	XP_016856817.1:n.*24T>C
XM_024447198.1:c.*24T>C	XP_024302966.1:n.*24T>C
XR_002956640.1:n.2914T>C
NM_005957.5:c.*24T>C MANE Select	NP_005948.3:n.*24T>C
NM_001330358.2:c.*24T>C	NP_001317287.1:n.*24T>C