Canonical Allele Identifier: CA521186890

Gene: MTHFR

Linked Data

• dbSNP Id: rs1490107316
• gnomAD v2: 1-11860407-C-G
• gnomAD v4: 1-11800350-C-G
• MyVariant Identifiers: chr1:g.11860407C>G (hg19) ; chr1:g.11800350C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800350C>G , CM000663.2:g.11800350C>G	GRCh38
NC_000001.10:g.11860407C>G , CM000663.1:g.11860407C>G	GRCh37
NC_000001.9:g.11782994C>G	NCBI36
NG_013351.1:g.10754G>C , LRG_726:g.10754G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.476-28G>C	ENSP00000365669.3:n.476-28G>C
ENST00000376585.6:c.599-28G>C	ENSP00000365770.1:n.599-28G>C
ENST00000376590.9:c.476-28G>C MANE Select	ENSP00000365775.3:n.476-28G>C
ENST00000376592.6:c.476-28G>C	ENSP00000365777.1:n.476-28G>C
ENST00000423400.7:c.596-28G>C	ENSP00000398908.3:n.596-28G>C
ENST00000641407.1:c.476-28G>C	ENSP00000493098.1:n.476-28G>C
ENST00000641437.1:n.1418G>C
ENST00000641446.1:c.476-28G>C	ENSP00000493262.1:n.476-28G>C
ENST00000641721.1:n.533-28G>C
ENST00000641747.1:c.237-28G>C	ENSP00000493116.1:n.237-28G>C
ENST00000641759.1:n.611-28G>C
ENST00000641805.1:n.759-28G>C
ENST00000641909.1:n.1696G>C
ENST00000376583.7:c.599-28G>C	ENSP00000365767.3:n.599-28G>C
ENST00000376585.5:c.599-28G>C	ENSP00000365770.1:n.599-28G>C
ENST00000376590.7:c.476-28G>C	ENSP00000365775.3:n.476-28G>C
ENST00000376592.5:c.476-28G>C	ENSP00000365777.1:n.476-28G>C
NM_005957.4:c.476-28G>C , LRG_726t1:c.476-28G>C	NP_005948.3:n.476-28G>C
XM_005263458.2:c.599-28G>C	XP_005263515.1:n.599-28G>C
XM_005263460.3:c.476-28G>C	XP_005263517.1:n.476-28G>C
XM_005263461.3:c.476-28G>C	XP_005263518.1:n.476-28G>C
XM_005263462.3:c.476-28G>C	XP_005263519.1:n.476-28G>C
XM_005263463.2:c.230-28G>C	XP_005263520.1:n.230-28G>C
XM_011541495.1:c.596-28G>C	XP_011539797.1:n.596-28G>C
XM_011541496.1:c.599-28G>C	XP_011539798.1:n.599-28G>C
NM_001330358.1:c.599-28G>C	NP_001317287.1:n.599-28G>C
XM_005263460.5:c.476-28G>C	XP_005263517.1:n.476-28G>C
XM_005263462.4:c.476-28G>C	XP_005263519.1:n.476-28G>C
XM_005263463.4:c.230-28G>C	XP_005263520.1:n.230-28G>C
XM_011541495.3:c.596-28G>C	XP_011539797.1:n.596-28G>C
XM_011541496.3:c.599-28G>C	XP_011539798.1:n.599-28G>C
XM_017001328.2:c.599-28G>C	XP_016856817.1:n.599-28G>C
XM_024447198.1:c.230-28G>C	XP_024302966.1:n.230-28G>C
XR_002956640.1:n.1343-28G>C
NM_005957.5:c.476-28G>C MANE Select	NP_005948.3:n.476-28G>C
NM_001330358.2:c.599-28G>C	NP_001317287.1:n.599-28G>C