Canonical Allele Identifier: CA595745

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 1779939
• ClinVar RCV Id: RCV002404046
• dbSNP Id: rs368987205
• ExAC: 1:11863069 C / T
• gnomAD v2: 1-11863069-C-T
• gnomAD v4: 1-11803012-C-T
• MyVariant Identifiers: chr1:g.11863069C>T (hg19) ; chr1:g.11803012C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11803012C>T , CM000663.2:g.11803012C>T	GRCh38
NC_000001.10:g.11863069C>T , CM000663.1:g.11863069C>T	GRCh37
NC_000001.9:g.11785656C>T	NCBI36
NG_008766.1:g.1863C>T
NG_013351.1:g.8092G>A , LRG_726:g.8092G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.105G>A	ENSP00000365669.3:p.Pro35=
ENST00000376585.6:c.228G>A	ENSP00000365770.1:p.Pro76=
ENST00000376590.9:c.105G>A MANE Select	ENSP00000365775.3:p.Pro35=
ENST00000376592.6:c.105G>A	ENSP00000365777.1:p.Pro35=
ENST00000423400.7:c.225G>A	ENSP00000398908.3:p.Pro75=
ENST00000431243.6:n.886G>A
ENST00000641407.1:c.105G>A	ENSP00000493098.1:p.Pro35=
ENST00000641437.1:n.237G>A
ENST00000641446.1:c.105G>A	ENSP00000493262.1:p.Pro35=
ENST00000641721.1:n.162G>A
ENST00000641747.1:c.105G>A	ENSP00000493116.1:p.Pro35=
ENST00000641759.1:n.240G>A
ENST00000641805.1:n.388G>A
ENST00000641909.1:n.515G>A
ENST00000642002.1:n.334G>A
ENST00000376583.7:c.228G>A	ENSP00000365767.3:p.Pro76=
ENST00000376585.5:c.228G>A	ENSP00000365770.1:p.Pro76=
ENST00000376590.7:c.105G>A	ENSP00000365775.3:p.Pro35=
ENST00000376592.5:c.105G>A	ENSP00000365777.1:p.Pro35=
ENST00000418034.1:c.105G>A	ENSP00000405082.1:p.Pro35=
NM_005957.4:c.105G>A , LRG_726t1:c.105G>A	NP_005948.3:p.Pro35=
XM_005263458.2:c.228G>A	XP_005263515.1:p.Pro76=
XM_005263460.3:c.105G>A	XP_005263517.1:p.Pro35=
XM_005263461.3:c.105G>A	XP_005263518.1:p.Pro35=
XM_005263462.3:c.105G>A	XP_005263519.1:p.Pro35=
XM_005263463.2:c.-159G>A	XP_005263520.1:n.-159G>A
XM_011541495.1:c.225G>A	XP_011539797.1:p.Pro75=
XM_011541496.1:c.228G>A	XP_011539798.1:p.Pro76=
NM_001330358.1:c.228G>A	NP_001317287.1:p.Pro76=
XM_005263460.5:c.105G>A	XP_005263517.1:p.Pro35=
XM_005263462.4:c.105G>A	XP_005263519.1:p.Pro35=
XM_005263463.4:c.-159G>A	XP_005263520.1:n.-159G>A
XM_011541495.3:c.225G>A	XP_011539797.1:p.Pro75=
XM_011541496.3:c.228G>A	XP_011539798.1:p.Pro76=
XM_017001328.2:c.228G>A	XP_016856817.1:p.Pro76=
XM_024447198.1:c.-159G>A	XP_024302966.1:n.-159G>A
XR_002956640.1:n.972G>A
NM_005957.5:c.105G>A MANE Select	NP_005948.3:p.Pro35=
NM_001330358.2:c.228G>A	NP_001317287.1:p.Pro76=