Canonical Allele Identifier: CA10605414

Gene: MTHFR

Linked Data

• ClinVar Variation Id: 286247
• ClinVar RCV Id: RCV000385555 ; RCV000811402
• dbSNP Id: rs886043349
• MyVariant Identifiers: chr1:g.11854085_11854086delinsAG (hg19) ; chr1:g.11794028_11794029delinsAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794028_11794029delinsAG , CM000663.2:g.11794028_11794029delinsAG	GRCh38
NC_000001.10:g.11854085_11854086delinsAG , CM000663.1:g.11854085_11854086delinsAG	GRCh37
NC_000001.9:g.11776672_11776673delinsAG	NCBI36
NG_013351.1:g.17075_17076delinsCT , LRG_726:g.17075_17076delinsCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1531_1532delinsCT	ENSP00000365770.1:p.Glu511Leu
ENST00000376590.9:c.1408_1409delinsCT MANE Select	ENSP00000365775.3:p.Glu470Leu
ENST00000376592.6:c.1408_1409delinsCT	ENSP00000365777.1:p.Glu470Leu
ENST00000423400.7:c.1528_1529delinsCT	ENSP00000398908.3:p.Glu510Leu
ENST00000641407.1:c.1408_1409delinsCT	ENSP00000493098.1:p.Glu470Leu
ENST00000641446.1:c.1408_1409delinsCT	ENSP00000493262.1:p.Glu470Leu
ENST00000641747.1:c.*920_*921delinsCT	ENSP00000493116.1:n.*920_*921delinsCT
ENST00000641759.1:n.1777_1778delinsCT
ENST00000641805.1:n.1925_1926delinsCT
ENST00000641820.1:c.673_674delinsCT	ENSP00000492937.1:p.Glu225Leu
ENST00000376583.7:c.1531_1532delinsCT	ENSP00000365767.3:p.Glu511Leu
ENST00000376585.5:c.1531_1532delinsCT	ENSP00000365770.1:p.Glu511Leu
ENST00000376590.7:c.1408_1409delinsCT	ENSP00000365775.3:p.Glu470Leu
ENST00000376592.5:c.1408_1409delinsCT	ENSP00000365777.1:p.Glu470Leu
NM_005957.4:c.1408_1409delinsCT , LRG_726t1:c.1408_1409delinsCT	NP_005948.3:p.Glu470Leu
XM_005263458.2:c.1531_1532delinsCT	XP_005263515.1:p.Glu511Leu
XM_005263460.3:c.1408_1409delinsCT	XP_005263517.1:p.Glu470Leu
XM_005263461.3:c.1408_1409delinsCT	XP_005263518.1:p.Glu470Leu
XM_005263462.3:c.1408_1409delinsCT	XP_005263519.1:p.Glu470Leu
XM_005263463.2:c.1162_1163delinsCT	XP_005263520.1:p.Glu388Leu
XM_011541495.1:c.1528_1529delinsCT	XP_011539797.1:p.Glu510Leu
XM_011541496.1:c.1531_1532delinsCT	XP_011539798.1:p.Glu511Leu
NM_001330358.1:c.1531_1532delinsCT	NP_001317287.1:p.Glu511Leu
XM_005263460.5:c.1408_1409delinsCT	XP_005263517.1:p.Glu470Leu
XM_005263462.4:c.1408_1409delinsCT	XP_005263519.1:p.Glu470Leu
XM_005263463.4:c.1162_1163delinsCT	XP_005263520.1:p.Glu388Leu
XM_011541495.3:c.1528_1529delinsCT	XP_011539797.1:p.Glu510Leu
XM_011541496.3:c.1531_1532delinsCT	XP_011539798.1:p.Glu511Leu
XM_017001328.2:c.1531_1532delinsCT	XP_016856817.1:p.Glu511Leu
XM_024447198.1:c.1162_1163delinsCT	XP_024302966.1:p.Glu388Leu
XR_002956640.1:n.2509_2510delinsCT
NM_005957.5:c.1408_1409delinsCT MANE Select	NP_005948.3:p.Glu470Leu
NM_001330358.2:c.1531_1532delinsCT	NP_001317287.1:p.Glu511Leu