Canonical Allele Identifier: CA595671

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1078639
• ClinVar RCV Id: RCV001393655
• dbSNP Id: rs2066466
• ExAC: 1:11861276 C / A
• gnomAD v2: 1-11861276-C-A
• gnomAD v4: 1-11801219-C-A
• MyVariant Identifiers: chr1:g.11861276C>A (hg19) ; chr1:g.11801219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801219C>A , CM000663.2:g.11801219C>A	GRCh38
NC_000001.10:g.11861276C>A , CM000663.1:g.11861276C>A	GRCh37
NC_000001.9:g.11783863C>A	NCBI36
NG_008766.1:g.70C>A
NG_013351.1:g.9885G>T , LRG_726:g.9885G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.417G>T	ENSP00000365669.3:p.Thr139=
ENST00000376585.6:c.540G>T	ENSP00000365770.1:p.Thr180=
ENST00000376590.9:c.417G>T MANE Select	ENSP00000365775.3:p.Thr139=
ENST00000376592.6:c.417G>T	ENSP00000365777.1:p.Thr139=
ENST00000423400.7:c.537G>T	ENSP00000398908.3:p.Thr179=
ENST00000641407.1:c.417G>T	ENSP00000493098.1:p.Thr139=
ENST00000641437.1:n.549G>T
ENST00000641446.1:c.417G>T	ENSP00000493262.1:p.Thr139=
ENST00000641721.1:n.474G>T
ENST00000641747.1:c.237-897G>T	ENSP00000493116.1:n.237-897G>T
ENST00000641759.1:n.552G>T
ENST00000641805.1:n.700G>T
ENST00000641909.1:n.827G>T
ENST00000376583.7:c.540G>T	ENSP00000365767.3:p.Thr180=
ENST00000376585.5:c.540G>T	ENSP00000365770.1:p.Thr180=
ENST00000376590.7:c.417G>T	ENSP00000365775.3:p.Thr139=
ENST00000376592.5:c.417G>T	ENSP00000365777.1:p.Thr139=
ENST00000418034.1:c.417G>T	ENSP00000405082.1:p.Thr139=
NM_005957.4:c.417G>T , LRG_726t1:c.417G>T	NP_005948.3:p.Thr139=
XM_005263458.2:c.540G>T	XP_005263515.1:p.Thr180=
XM_005263460.3:c.417G>T	XP_005263517.1:p.Thr139=
XM_005263461.3:c.417G>T	XP_005263518.1:p.Thr139=
XM_005263462.3:c.417G>T	XP_005263519.1:p.Thr139=
XM_005263463.2:c.171G>T	XP_005263520.1:p.Thr57=
XM_011541495.1:c.537G>T	XP_011539797.1:p.Thr179=
XM_011541496.1:c.540G>T	XP_011539798.1:p.Thr180=
NM_001330358.1:c.540G>T	NP_001317287.1:p.Thr180=
XM_005263460.5:c.417G>T	XP_005263517.1:p.Thr139=
XM_005263462.4:c.417G>T	XP_005263519.1:p.Thr139=
XM_005263463.4:c.171G>T	XP_005263520.1:p.Thr57=
XM_011541495.3:c.537G>T	XP_011539797.1:p.Thr179=
XM_011541496.3:c.540G>T	XP_011539798.1:p.Thr180=
XM_017001328.2:c.540G>T	XP_016856817.1:p.Thr180=
XM_024447198.1:c.171G>T	XP_024302966.1:p.Thr57=
XR_002956640.1:n.1284G>T
NM_005957.5:c.417G>T MANE Select	NP_005948.3:p.Thr139=
NM_001330358.2:c.540G>T	NP_001317287.1:p.Thr180=