Canonical Allele Identifier: CA338421980

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11860312G>C (hg19) ; chr1:g.11800255G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800255G>C , CM000663.2:g.11800255G>C	GRCh38
NC_000001.10:g.11860312G>C , CM000663.1:g.11860312G>C	GRCh37
NC_000001.9:g.11782899G>C	NCBI36
NG_013351.1:g.10849C>G , LRG_726:g.10849C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.543C>G	ENSP00000365669.3:p.His181Gln
ENST00000376585.6:c.666C>G	ENSP00000365770.1:p.His222Gln
ENST00000376590.9:c.543C>G MANE Select	ENSP00000365775.3:p.His181Gln
ENST00000376592.6:c.543C>G	ENSP00000365777.1:p.His181Gln
ENST00000423400.7:c.663C>G	ENSP00000398908.3:p.His221Gln
ENST00000641407.1:c.543C>G	ENSP00000493098.1:p.His181Gln
ENST00000641437.1:n.1513C>G
ENST00000641446.1:c.543C>G	ENSP00000493262.1:p.His181Gln
ENST00000641721.1:n.600C>G
ENST00000641747.1:c.*55C>G	ENSP00000493116.1:n.*55C>G
ENST00000641759.1:n.678C>G
ENST00000641805.1:n.826C>G
ENST00000641909.1:n.1791C>G
ENST00000376583.7:c.666C>G	ENSP00000365767.3:p.His222Gln
ENST00000376585.5:c.666C>G	ENSP00000365770.1:p.His222Gln
ENST00000376590.7:c.543C>G	ENSP00000365775.3:p.His181Gln
ENST00000376592.5:c.543C>G	ENSP00000365777.1:p.His181Gln
NM_005957.4:c.543C>G , LRG_726t1:c.543C>G	NP_005948.3:p.His181Gln
XM_005263458.2:c.666C>G	XP_005263515.1:p.His222Gln
XM_005263460.3:c.543C>G	XP_005263517.1:p.His181Gln
XM_005263461.3:c.543C>G	XP_005263518.1:p.His181Gln
XM_005263462.3:c.543C>G	XP_005263519.1:p.His181Gln
XM_005263463.2:c.297C>G	XP_005263520.1:p.His99Gln
XM_011541495.1:c.663C>G	XP_011539797.1:p.His221Gln
XM_011541496.1:c.666C>G	XP_011539798.1:p.His222Gln
NM_001330358.1:c.666C>G	NP_001317287.1:p.His222Gln
XM_005263460.5:c.543C>G	XP_005263517.1:p.His181Gln
XM_005263462.4:c.543C>G	XP_005263519.1:p.His181Gln
XM_005263463.4:c.297C>G	XP_005263520.1:p.His99Gln
XM_011541495.3:c.663C>G	XP_011539797.1:p.His221Gln
XM_011541496.3:c.666C>G	XP_011539798.1:p.His222Gln
XM_017001328.2:c.666C>G	XP_016856817.1:p.His222Gln
XM_024447198.1:c.297C>G	XP_024302966.1:p.His99Gln
XR_002956640.1:n.1410C>G
NM_005957.5:c.543C>G MANE Select	NP_005948.3:p.His181Gln
NM_001330358.2:c.666C>G	NP_001317287.1:p.His222Gln