Canonical Allele Identifier: CA338421975

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11860310A>C (hg19) ; chr1:g.11800253A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800253A>C , CM000663.2:g.11800253A>C	GRCh38
NC_000001.10:g.11860310A>C , CM000663.1:g.11860310A>C	GRCh37
NC_000001.9:g.11782897A>C	NCBI36
NG_013351.1:g.10851T>G , LRG_726:g.10851T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.545T>G	ENSP00000365669.3:p.Ile182Ser
ENST00000376585.6:c.668T>G	ENSP00000365770.1:p.Ile223Ser
ENST00000376590.9:c.545T>G MANE Select	ENSP00000365775.3:p.Ile182Ser
ENST00000376592.6:c.545T>G	ENSP00000365777.1:p.Ile182Ser
ENST00000423400.7:c.665T>G	ENSP00000398908.3:p.Ile222Ser
ENST00000641407.1:c.545T>G	ENSP00000493098.1:p.Ile182Ser
ENST00000641437.1:n.1515T>G
ENST00000641446.1:c.545T>G	ENSP00000493262.1:p.Ile182Ser
ENST00000641721.1:n.602T>G
ENST00000641747.1:c.*57T>G	ENSP00000493116.1:n.*57T>G
ENST00000641759.1:n.680T>G
ENST00000641805.1:n.828T>G
ENST00000641909.1:n.1793T>G
ENST00000376583.7:c.668T>G	ENSP00000365767.3:p.Ile223Ser
ENST00000376585.5:c.668T>G	ENSP00000365770.1:p.Ile223Ser
ENST00000376590.7:c.545T>G	ENSP00000365775.3:p.Ile182Ser
ENST00000376592.5:c.545T>G	ENSP00000365777.1:p.Ile182Ser
NM_005957.4:c.545T>G , LRG_726t1:c.545T>G	NP_005948.3:p.Ile182Ser
XM_005263458.2:c.668T>G	XP_005263515.1:p.Ile223Ser
XM_005263460.3:c.545T>G	XP_005263517.1:p.Ile182Ser
XM_005263461.3:c.545T>G	XP_005263518.1:p.Ile182Ser
XM_005263462.3:c.545T>G	XP_005263519.1:p.Ile182Ser
XM_005263463.2:c.299T>G	XP_005263520.1:p.Ile100Ser
XM_011541495.1:c.665T>G	XP_011539797.1:p.Ile222Ser
XM_011541496.1:c.668T>G	XP_011539798.1:p.Ile223Ser
NM_001330358.1:c.668T>G	NP_001317287.1:p.Ile223Ser
XM_005263460.5:c.545T>G	XP_005263517.1:p.Ile182Ser
XM_005263462.4:c.545T>G	XP_005263519.1:p.Ile182Ser
XM_005263463.4:c.299T>G	XP_005263520.1:p.Ile100Ser
XM_011541495.3:c.665T>G	XP_011539797.1:p.Ile222Ser
XM_011541496.3:c.668T>G	XP_011539798.1:p.Ile223Ser
XM_017001328.2:c.668T>G	XP_016856817.1:p.Ile223Ser
XM_024447198.1:c.299T>G	XP_024302966.1:p.Ile100Ser
XR_002956640.1:n.1412T>G
NM_005957.5:c.545T>G MANE Select	NP_005948.3:p.Ile182Ser
NM_001330358.2:c.668T>G	NP_001317287.1:p.Ile223Ser