Canonical Allele Identifier: CA1153811426

Gene: MTHFR

Linked Data

• dbSNP Id: rs1570490129
• gnomAD v4: 1-11800530-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800530T>C , CM000663.2:g.11800530T>C	GRCh38
NC_000001.10:g.11860587T>C , CM000663.1:g.11860587T>C	GRCh37
NC_000001.9:g.11783174T>C	NCBI36
NG_013351.1:g.10574A>G , LRG_726:g.10574A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.476-208A>G	ENSP00000365669.3:n.476-208A>G
ENST00000376585.6:c.599-208A>G	ENSP00000365770.1:n.599-208A>G
ENST00000376590.9:c.476-208A>G MANE Select	ENSP00000365775.3:n.476-208A>G
ENST00000376592.6:c.476-208A>G	ENSP00000365777.1:n.476-208A>G
ENST00000423400.7:c.596-208A>G	ENSP00000398908.3:n.596-208A>G
ENST00000641407.1:c.476-208A>G	ENSP00000493098.1:n.476-208A>G
ENST00000641437.1:n.1238A>G
ENST00000641446.1:c.476-208A>G	ENSP00000493262.1:n.476-208A>G
ENST00000641721.1:n.533-208A>G
ENST00000641747.1:c.237-208A>G	ENSP00000493116.1:n.237-208A>G
ENST00000641759.1:n.611-208A>G
ENST00000641805.1:n.759-208A>G
ENST00000641909.1:n.1516A>G
ENST00000376583.7:c.599-208A>G	ENSP00000365767.3:n.599-208A>G
ENST00000376585.5:c.599-208A>G	ENSP00000365770.1:n.599-208A>G
ENST00000376590.7:c.476-208A>G	ENSP00000365775.3:n.476-208A>G
ENST00000376592.5:c.476-208A>G	ENSP00000365777.1:n.476-208A>G
NM_005957.4:c.476-208A>G , LRG_726t1:c.476-208A>G	NP_005948.3:n.476-208A>G
XM_005263458.2:c.599-208A>G	XP_005263515.1:n.599-208A>G
XM_005263460.3:c.476-208A>G	XP_005263517.1:n.476-208A>G
XM_005263461.3:c.476-208A>G	XP_005263518.1:n.476-208A>G
XM_005263462.3:c.476-208A>G	XP_005263519.1:n.476-208A>G
XM_005263463.2:c.230-208A>G	XP_005263520.1:n.230-208A>G
XM_011541495.1:c.596-208A>G	XP_011539797.1:n.596-208A>G
XM_011541496.1:c.599-208A>G	XP_011539798.1:n.599-208A>G
NM_001330358.1:c.599-208A>G	NP_001317287.1:n.599-208A>G
XM_005263460.5:c.476-208A>G	XP_005263517.1:n.476-208A>G
XM_005263462.4:c.476-208A>G	XP_005263519.1:n.476-208A>G
XM_005263463.4:c.230-208A>G	XP_005263520.1:n.230-208A>G
XM_011541495.3:c.596-208A>G	XP_011539797.1:n.596-208A>G
XM_011541496.3:c.599-208A>G	XP_011539798.1:n.599-208A>G
XM_017001328.2:c.599-208A>G	XP_016856817.1:n.599-208A>G
XM_024447198.1:c.230-208A>G	XP_024302966.1:n.230-208A>G
XR_002956640.1:n.1343-208A>G
NM_005957.5:c.476-208A>G MANE Select	NP_005948.3:n.476-208A>G
NM_001330358.2:c.599-208A>G	NP_001317287.1:n.599-208A>G