Canonical Allele Identifier: CA416360065

Gene: MTHFR

Linked Data

• COSMIC: COSM5993095 ; COSM5993096
• MyVariant Identifiers: chr1:g.11861252C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801195C>T , CM000663.2:g.11801195C>T	GRCh38
NC_000001.10:g.11861252C>T , CM000663.1:g.11861252C>T	GRCh37
NC_000001.9:g.11783839C>T	NCBI36
NG_008766.1:g.46C>T
NG_013351.1:g.9909G>A , LRG_726:g.9909G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.441G>A	ENSP00000365669.3:p.Gln147=
ENST00000376585.6:c.564G>A	ENSP00000365770.1:p.Gln188=
ENST00000376590.9:c.441G>A MANE Select	ENSP00000365775.3:p.Gln147=
ENST00000376592.6:c.441G>A	ENSP00000365777.1:p.Gln147=
ENST00000423400.7:c.561G>A	ENSP00000398908.3:p.Gln187=
ENST00000641407.1:c.441G>A	ENSP00000493098.1:p.Gln147=
ENST00000641437.1:n.573G>A
ENST00000641446.1:c.441G>A	ENSP00000493262.1:p.Gln147=
ENST00000641721.1:n.498G>A
ENST00000641747.1:c.237-873G>A	ENSP00000493116.1:n.237-873G>A
ENST00000641759.1:n.576G>A
ENST00000641805.1:n.724G>A
ENST00000641909.1:n.851G>A
ENST00000376583.7:c.564G>A	ENSP00000365767.3:p.Gln188=
ENST00000376585.5:c.564G>A	ENSP00000365770.1:p.Gln188=
ENST00000376590.7:c.441G>A	ENSP00000365775.3:p.Gln147=
ENST00000376592.5:c.441G>A	ENSP00000365777.1:p.Gln147=
NM_005957.4:c.441G>A , LRG_726t1:c.441G>A	NP_005948.3:p.Gln147=
XM_005263458.2:c.564G>A	XP_005263515.1:p.Gln188=
XM_005263460.3:c.441G>A	XP_005263517.1:p.Gln147=
XM_005263461.3:c.441G>A	XP_005263518.1:p.Gln147=
XM_005263462.3:c.441G>A	XP_005263519.1:p.Gln147=
XM_005263463.2:c.195G>A	XP_005263520.1:p.Gln65=
XM_011541495.1:c.561G>A	XP_011539797.1:p.Gln187=
XM_011541496.1:c.564G>A	XP_011539798.1:p.Gln188=
NM_001330358.1:c.564G>A	NP_001317287.1:p.Gln188=
XM_005263460.5:c.441G>A	XP_005263517.1:p.Gln147=
XM_005263462.4:c.441G>A	XP_005263519.1:p.Gln147=
XM_005263463.4:c.195G>A	XP_005263520.1:p.Gln65=
XM_011541495.3:c.561G>A	XP_011539797.1:p.Gln187=
XM_011541496.3:c.564G>A	XP_011539798.1:p.Gln188=
XM_017001328.2:c.564G>A	XP_016856817.1:p.Gln188=
XM_024447198.1:c.195G>A	XP_024302966.1:p.Gln65=
XR_002956640.1:n.1308G>A
NM_005957.5:c.441G>A MANE Select	NP_005948.3:p.Gln147=
NM_001330358.2:c.564G>A	NP_001317287.1:p.Gln188=