Canonical Allele Identifier: CA338475412

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11852428T>G (hg19) ; chr1:g.11792371T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11792371T>G , CM000663.2:g.11792371T>G	GRCh38
NC_000001.10:g.11852428T>G , CM000663.1:g.11852428T>G	GRCh37
NC_000001.9:g.11775015T>G	NCBI36
NG_013351.1:g.18733A>C , LRG_726:g.18733A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.1662A>C	ENSP00000365770.1:p.Leu554Phe
ENST00000376590.9:c.1539A>C MANE Select	ENSP00000365775.3:p.Leu513Phe
ENST00000376592.6:c.1539A>C	ENSP00000365777.1:p.Leu513Phe
ENST00000423400.7:c.1659A>C	ENSP00000398908.3:p.Leu553Phe
ENST00000641407.1:c.1539A>C	ENSP00000493098.1:p.Leu513Phe
ENST00000641446.1:c.1539A>C	ENSP00000493262.1:p.Leu513Phe
ENST00000641747.1:c.*1051A>C	ENSP00000493116.1:n.*1051A>C
ENST00000641759.1:n.1908A>C
ENST00000641805.1:n.2056A>C
ENST00000641820.1:c.804A>C	ENSP00000492937.1:p.Leu268Phe
ENST00000376583.7:c.1662A>C	ENSP00000365767.3:p.Leu554Phe
ENST00000376585.5:c.1662A>C	ENSP00000365770.1:p.Leu554Phe
ENST00000376590.7:c.1539A>C	ENSP00000365775.3:p.Leu513Phe
ENST00000376592.5:c.1539A>C	ENSP00000365777.1:p.Leu513Phe
NM_005957.4:c.1539A>C , LRG_726t1:c.1539A>C	NP_005948.3:p.Leu513Phe
XM_005263458.2:c.1662A>C	XP_005263515.1:p.Leu554Phe
XM_005263460.3:c.1539A>C	XP_005263517.1:p.Leu513Phe
XM_005263461.3:c.1539A>C	XP_005263518.1:p.Leu513Phe
XM_005263462.3:c.1539A>C	XP_005263519.1:p.Leu513Phe
XM_005263463.2:c.1293A>C	XP_005263520.1:p.Leu431Phe
XM_011541495.1:c.1659A>C	XP_011539797.1:p.Leu553Phe
XM_011541496.1:c.1662A>C	XP_011539798.1:p.Leu554Phe
NM_001330358.1:c.1662A>C	NP_001317287.1:p.Leu554Phe
XM_005263460.5:c.1539A>C	XP_005263517.1:p.Leu513Phe
XM_005263462.4:c.1539A>C	XP_005263519.1:p.Leu513Phe
XM_005263463.4:c.1293A>C	XP_005263520.1:p.Leu431Phe
XM_011541495.3:c.1659A>C	XP_011539797.1:p.Leu553Phe
XM_011541496.3:c.1662A>C	XP_011539798.1:p.Leu554Phe
XM_017001328.2:c.1662A>C	XP_016856817.1:p.Leu554Phe
XM_024447198.1:c.1293A>C	XP_024302966.1:p.Leu431Phe
XR_002956640.1:n.2640A>C
NM_005957.5:c.1539A>C MANE Select	NP_005948.3:p.Leu513Phe
NM_001330358.2:c.1662A>C	NP_001317287.1:p.Leu554Phe