Canonical Allele Identifier: CA416360447

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1097958
• ClinVar RCV Id: RCV001419715
• dbSNP Id: rs1205350004
• gnomAD v3: 1-11802960-A-G
• gnomAD v4: 1-11802960-A-G
• MyVariant Identifiers: chr1:g.11863017A>G (hg19) ; chr1:g.11802960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802960A>G , CM000663.2:g.11802960A>G	GRCh38
NC_000001.10:g.11863017A>G , CM000663.1:g.11863017A>G	GRCh37
NC_000001.9:g.11785604A>G	NCBI36
NG_008766.1:g.1811A>G
NG_013351.1:g.8144T>C , LRG_726:g.8144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.157T>C	ENSP00000365669.3:p.Leu53=
ENST00000376585.6:c.280T>C	ENSP00000365770.1:p.Leu94=
ENST00000376590.9:c.157T>C MANE Select	ENSP00000365775.3:p.Leu53=
ENST00000376592.6:c.157T>C	ENSP00000365777.1:p.Leu53=
ENST00000423400.7:c.277T>C	ENSP00000398908.3:p.Leu93=
ENST00000431243.6:n.938T>C
ENST00000641407.1:c.157T>C	ENSP00000493098.1:p.Leu53=
ENST00000641437.1:n.289T>C
ENST00000641446.1:c.157T>C	ENSP00000493262.1:p.Leu53=
ENST00000641721.1:n.214T>C
ENST00000641747.1:c.157T>C	ENSP00000493116.1:p.Leu53=
ENST00000641759.1:n.292T>C
ENST00000641805.1:n.440T>C
ENST00000641909.1:n.567T>C
ENST00000642002.1:n.386T>C
ENST00000376583.7:c.280T>C	ENSP00000365767.3:p.Leu94=
ENST00000376585.5:c.280T>C	ENSP00000365770.1:p.Leu94=
ENST00000376590.7:c.157T>C	ENSP00000365775.3:p.Leu53=
ENST00000376592.5:c.157T>C	ENSP00000365777.1:p.Leu53=
ENST00000418034.1:c.157T>C	ENSP00000405082.1:p.Leu53=
NM_005957.4:c.157T>C , LRG_726t1:c.157T>C	NP_005948.3:p.Leu53=
XM_005263458.2:c.280T>C	XP_005263515.1:p.Leu94=
XM_005263460.3:c.157T>C	XP_005263517.1:p.Leu53=
XM_005263461.3:c.157T>C	XP_005263518.1:p.Leu53=
XM_005263462.3:c.157T>C	XP_005263519.1:p.Leu53=
XM_005263463.2:c.-107T>C	XP_005263520.1:n.-107T>C
XM_011541495.1:c.277T>C	XP_011539797.1:p.Leu93=
XM_011541496.1:c.280T>C	XP_011539798.1:p.Leu94=
NM_001330358.1:c.280T>C	NP_001317287.1:p.Leu94=
XM_005263460.5:c.157T>C	XP_005263517.1:p.Leu53=
XM_005263462.4:c.157T>C	XP_005263519.1:p.Leu53=
XM_005263463.4:c.-107T>C	XP_005263520.1:n.-107T>C
XM_011541495.3:c.277T>C	XP_011539797.1:p.Leu93=
XM_011541496.3:c.280T>C	XP_011539798.1:p.Leu94=
XM_017001328.2:c.280T>C	XP_016856817.1:p.Leu94=
XM_024447198.1:c.-107T>C	XP_024302966.1:n.-107T>C
XR_002956640.1:n.1024T>C
NM_005957.5:c.157T>C MANE Select	NP_005948.3:p.Leu53=
NM_001330358.2:c.280T>C	NP_001317287.1:p.Leu94=