Canonical Allele Identifier: CA2643300307

Gene: MTHFR

Linked Data

• gnomAD v4: 1-11800792-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800792C>A , CM000663.2:g.11800792C>A	GRCh38
NC_000001.10:g.11860849C>A , CM000663.1:g.11860849C>A	GRCh37
NC_000001.9:g.11783436C>A	NCBI36
NG_013351.1:g.10312G>T , LRG_726:g.10312G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.475+369G>T	ENSP00000365669.3:n.475+369G>T
ENST00000376585.6:c.598+369G>T	ENSP00000365770.1:n.598+369G>T
ENST00000376590.9:c.475+369G>T MANE Select	ENSP00000365775.3:n.475+369G>T
ENST00000376592.6:c.475+369G>T	ENSP00000365777.1:n.475+369G>T
ENST00000423400.7:c.595+369G>T	ENSP00000398908.3:n.595+369G>T
ENST00000641407.1:c.475+369G>T	ENSP00000493098.1:n.475+369G>T
ENST00000641437.1:n.976G>T
ENST00000641446.1:c.475+369G>T	ENSP00000493262.1:n.475+369G>T
ENST00000641721.1:n.532+369G>T
ENST00000641747.1:c.237-470G>T	ENSP00000493116.1:n.237-470G>T
ENST00000641759.1:n.610+369G>T
ENST00000641805.1:n.758+369G>T
ENST00000641909.1:n.1254G>T
ENST00000376583.7:c.598+369G>T	ENSP00000365767.3:n.598+369G>T
ENST00000376585.5:c.598+369G>T	ENSP00000365770.1:n.598+369G>T
ENST00000376590.7:c.475+369G>T	ENSP00000365775.3:n.475+369G>T
ENST00000376592.5:c.475+369G>T	ENSP00000365777.1:n.475+369G>T
NM_005957.4:c.475+369G>T , LRG_726t1:c.475+369G>T	NP_005948.3:n.475+369G>T
XM_005263458.2:c.598+369G>T	XP_005263515.1:n.598+369G>T
XM_005263460.3:c.475+369G>T	XP_005263517.1:n.475+369G>T
XM_005263461.3:c.475+369G>T	XP_005263518.1:n.475+369G>T
XM_005263462.3:c.475+369G>T	XP_005263519.1:n.475+369G>T
XM_005263463.2:c.229+369G>T	XP_005263520.1:n.229+369G>T
XM_011541495.1:c.595+369G>T	XP_011539797.1:n.595+369G>T
XM_011541496.1:c.598+369G>T	XP_011539798.1:n.598+369G>T
NM_001330358.1:c.598+369G>T	NP_001317287.1:n.598+369G>T
XM_005263460.5:c.475+369G>T	XP_005263517.1:n.475+369G>T
XM_005263462.4:c.475+369G>T	XP_005263519.1:n.475+369G>T
XM_005263463.4:c.229+369G>T	XP_005263520.1:n.229+369G>T
XM_011541495.3:c.595+369G>T	XP_011539797.1:n.595+369G>T
XM_011541496.3:c.598+369G>T	XP_011539798.1:n.598+369G>T
XM_017001328.2:c.598+369G>T	XP_016856817.1:n.598+369G>T
XM_024447198.1:c.229+369G>T	XP_024302966.1:n.229+369G>T
XR_002956640.1:n.1342+369G>T
NM_005957.5:c.475+369G>T MANE Select	NP_005948.3:n.475+369G>T
NM_001330358.2:c.598+369G>T	NP_001317287.1:n.598+369G>T