Canonical Allele Identifier: CA338421983

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11860313T>C (hg19) ; chr1:g.11800256T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800256T>C , CM000663.2:g.11800256T>C	GRCh38
NC_000001.10:g.11860313T>C , CM000663.1:g.11860313T>C	GRCh37
NC_000001.9:g.11782900T>C	NCBI36
NG_013351.1:g.10848A>G , LRG_726:g.10848A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.542A>G	ENSP00000365669.3:p.His181Arg
ENST00000376585.6:c.665A>G	ENSP00000365770.1:p.His222Arg
ENST00000376590.9:c.542A>G MANE Select	ENSP00000365775.3:p.His181Arg
ENST00000376592.6:c.542A>G	ENSP00000365777.1:p.His181Arg
ENST00000423400.7:c.662A>G	ENSP00000398908.3:p.His221Arg
ENST00000641407.1:c.542A>G	ENSP00000493098.1:p.His181Arg
ENST00000641437.1:n.1512A>G
ENST00000641446.1:c.542A>G	ENSP00000493262.1:p.His181Arg
ENST00000641721.1:n.599A>G
ENST00000641747.1:c.*54A>G	ENSP00000493116.1:n.*54A>G
ENST00000641759.1:n.677A>G
ENST00000641805.1:n.825A>G
ENST00000641909.1:n.1790A>G
ENST00000376583.7:c.665A>G	ENSP00000365767.3:p.His222Arg
ENST00000376585.5:c.665A>G	ENSP00000365770.1:p.His222Arg
ENST00000376590.7:c.542A>G	ENSP00000365775.3:p.His181Arg
ENST00000376592.5:c.542A>G	ENSP00000365777.1:p.His181Arg
NM_005957.4:c.542A>G , LRG_726t1:c.542A>G	NP_005948.3:p.His181Arg
XM_005263458.2:c.665A>G	XP_005263515.1:p.His222Arg
XM_005263460.3:c.542A>G	XP_005263517.1:p.His181Arg
XM_005263461.3:c.542A>G	XP_005263518.1:p.His181Arg
XM_005263462.3:c.542A>G	XP_005263519.1:p.His181Arg
XM_005263463.2:c.296A>G	XP_005263520.1:p.His99Arg
XM_011541495.1:c.662A>G	XP_011539797.1:p.His221Arg
XM_011541496.1:c.665A>G	XP_011539798.1:p.His222Arg
NM_001330358.1:c.665A>G	NP_001317287.1:p.His222Arg
XM_005263460.5:c.542A>G	XP_005263517.1:p.His181Arg
XM_005263462.4:c.542A>G	XP_005263519.1:p.His181Arg
XM_005263463.4:c.296A>G	XP_005263520.1:p.His99Arg
XM_011541495.3:c.662A>G	XP_011539797.1:p.His221Arg
XM_011541496.3:c.665A>G	XP_011539798.1:p.His222Arg
XM_017001328.2:c.665A>G	XP_016856817.1:p.His222Arg
XM_024447198.1:c.296A>G	XP_024302966.1:p.His99Arg
XR_002956640.1:n.1409A>G
NM_005957.5:c.542A>G MANE Select	NP_005948.3:p.His181Arg
NM_001330358.2:c.665A>G	NP_001317287.1:p.His222Arg