Canonical Allele Identifier: CA338422910

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11802891-G-C
• MyVariant Identifiers: chr1:g.11862948G>C (hg19) ; chr1:g.11802891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11802891G>C , CM000663.2:g.11802891G>C	GRCh38
NC_000001.10:g.11862948G>C , CM000663.1:g.11862948G>C	GRCh37
NC_000001.9:g.11785535G>C	NCBI36
NG_008766.1:g.1742G>C
NG_013351.1:g.8213C>G , LRG_726:g.8213C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.226C>G	ENSP00000365669.3:p.Leu76Val
ENST00000376585.6:c.349C>G	ENSP00000365770.1:p.Leu117Val
ENST00000376590.9:c.226C>G MANE Select	ENSP00000365775.3:p.Leu76Val
ENST00000376592.6:c.226C>G	ENSP00000365777.1:p.Leu76Val
ENST00000423400.7:c.346C>G	ENSP00000398908.3:p.Leu116Val
ENST00000431243.6:n.1007C>G
ENST00000641407.1:c.226C>G	ENSP00000493098.1:p.Leu76Val
ENST00000641437.1:n.358C>G
ENST00000641446.1:c.226C>G	ENSP00000493262.1:p.Leu76Val
ENST00000641721.1:n.283C>G
ENST00000641747.1:c.226C>G	ENSP00000493116.1:p.Leu76Val
ENST00000641759.1:n.361C>G
ENST00000641805.1:n.509C>G
ENST00000641909.1:n.636C>G
ENST00000642002.1:n.455C>G
ENST00000376583.7:c.349C>G	ENSP00000365767.3:p.Leu117Val
ENST00000376585.5:c.349C>G	ENSP00000365770.1:p.Leu117Val
ENST00000376590.7:c.226C>G	ENSP00000365775.3:p.Leu76Val
ENST00000376592.5:c.226C>G	ENSP00000365777.1:p.Leu76Val
ENST00000418034.1:c.226C>G	ENSP00000405082.1:p.Leu76Val
NM_005957.4:c.226C>G , LRG_726t1:c.226C>G	NP_005948.3:p.Leu76Val
XM_005263458.2:c.349C>G	XP_005263515.1:p.Leu117Val
XM_005263460.3:c.226C>G	XP_005263517.1:p.Leu76Val
XM_005263461.3:c.226C>G	XP_005263518.1:p.Leu76Val
XM_005263462.3:c.226C>G	XP_005263519.1:p.Leu76Val
XM_005263463.2:c.-38C>G	XP_005263520.1:n.-38C>G
XM_011541495.1:c.346C>G	XP_011539797.1:p.Leu116Val
XM_011541496.1:c.349C>G	XP_011539798.1:p.Leu117Val
NM_001330358.1:c.349C>G	NP_001317287.1:p.Leu117Val
XM_005263460.5:c.226C>G	XP_005263517.1:p.Leu76Val
XM_005263462.4:c.226C>G	XP_005263519.1:p.Leu76Val
XM_005263463.4:c.-38C>G	XP_005263520.1:n.-38C>G
XM_011541495.3:c.346C>G	XP_011539797.1:p.Leu116Val
XM_011541496.3:c.349C>G	XP_011539798.1:p.Leu117Val
XM_017001328.2:c.349C>G	XP_016856817.1:p.Leu117Val
XM_024447198.1:c.-38C>G	XP_024302966.1:n.-38C>G
XR_002956640.1:n.1093C>G
NM_005957.5:c.226C>G MANE Select	NP_005948.3:p.Leu76Val
NM_001330358.2:c.349C>G	NP_001317287.1:p.Leu117Val