Canonical Allele Identifier: CA338480869

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 937445
• ClinVar RCV Id: RCV001206455
• dbSNP Id: rs1644255161
• MyVariant Identifiers: chr1:g.11856391C>A (hg19) ; chr1:g.11796334C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11796334C>A , CM000663.2:g.11796334C>A	GRCh38
NC_000001.10:g.11856391C>A , CM000663.1:g.11856391C>A	GRCh37
NC_000001.9:g.11778978C>A	NCBI36
NG_013351.1:g.14770G>T , LRG_726:g.14770G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.652G>T	ENSP00000365669.3:p.Val218Leu
ENST00000376585.6:c.775G>T	ENSP00000365770.1:p.Val259Leu
ENST00000376590.9:c.652G>T MANE Select	ENSP00000365775.3:p.Val218Leu
ENST00000376592.6:c.652G>T	ENSP00000365777.1:p.Val218Leu
ENST00000423400.7:c.772G>T	ENSP00000398908.3:p.Val258Leu
ENST00000641407.1:c.652G>T	ENSP00000493098.1:p.Val218Leu
ENST00000641446.1:c.652G>T	ENSP00000493262.1:p.Val218Leu
ENST00000641721.1:n.644-986G>T
ENST00000641747.1:c.*164G>T	ENSP00000493116.1:n.*164G>T
ENST00000641759.1:n.787G>T
ENST00000641805.1:n.935G>T
ENST00000641820.1:c.-84G>T	ENSP00000492937.1:n.-84G>T
ENST00000376583.7:c.775G>T	ENSP00000365767.3:p.Val259Leu
ENST00000376585.5:c.775G>T	ENSP00000365770.1:p.Val259Leu
ENST00000376590.7:c.652G>T	ENSP00000365775.3:p.Val218Leu
ENST00000376592.5:c.652G>T	ENSP00000365777.1:p.Val218Leu
NM_005957.4:c.652G>T , LRG_726t1:c.652G>T	NP_005948.3:p.Val218Leu
XM_005263458.2:c.775G>T	XP_005263515.1:p.Val259Leu
XM_005263460.3:c.652G>T	XP_005263517.1:p.Val218Leu
XM_005263461.3:c.652G>T	XP_005263518.1:p.Val218Leu
XM_005263462.3:c.652G>T	XP_005263519.1:p.Val218Leu
XM_005263463.2:c.406G>T	XP_005263520.1:p.Val136Leu
XM_011541495.1:c.772G>T	XP_011539797.1:p.Val258Leu
XM_011541496.1:c.775G>T	XP_011539798.1:p.Val259Leu
NM_001330358.1:c.775G>T	NP_001317287.1:p.Val259Leu
XM_005263460.5:c.652G>T	XP_005263517.1:p.Val218Leu
XM_005263462.4:c.652G>T	XP_005263519.1:p.Val218Leu
XM_005263463.4:c.406G>T	XP_005263520.1:p.Val136Leu
XM_011541495.3:c.772G>T	XP_011539797.1:p.Val258Leu
XM_011541496.3:c.775G>T	XP_011539798.1:p.Val259Leu
XM_017001328.2:c.775G>T	XP_016856817.1:p.Val259Leu
XM_024447198.1:c.406G>T	XP_024302966.1:p.Val136Leu
XR_002956640.1:n.1519G>T
NM_005957.5:c.652G>T MANE Select	NP_005948.3:p.Val218Leu
NM_001330358.2:c.775G>T	NP_001317287.1:p.Val259Leu