Canonical Allele Identifier: CA416360100

Gene: MTHFR

Linked Data

• MyVariant Identifiers: chr1:g.11861315C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11801258C>G , CM000663.2:g.11801258C>G	GRCh38
NC_000001.10:g.11861315C>G , CM000663.1:g.11861315C>G	GRCh37
NC_000001.9:g.11783902C>G	NCBI36
NG_008766.1:g.109C>G
NG_013351.1:g.9846G>C , LRG_726:g.9846G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.378G>C	ENSP00000365669.3:p.Leu126=
ENST00000376585.6:c.501G>C	ENSP00000365770.1:p.Leu167=
ENST00000376590.9:c.378G>C MANE Select	ENSP00000365775.3:p.Leu126=
ENST00000376592.6:c.378G>C	ENSP00000365777.1:p.Leu126=
ENST00000423400.7:c.498G>C	ENSP00000398908.3:p.Leu166=
ENST00000641407.1:c.378G>C	ENSP00000493098.1:p.Leu126=
ENST00000641437.1:n.510G>C
ENST00000641446.1:c.378G>C	ENSP00000493262.1:p.Leu126=
ENST00000641721.1:n.435G>C
ENST00000641747.1:c.237-936G>C	ENSP00000493116.1:n.237-936G>C
ENST00000641759.1:n.513G>C
ENST00000641805.1:n.661G>C
ENST00000641909.1:n.788G>C
ENST00000376583.7:c.501G>C	ENSP00000365767.3:p.Leu167=
ENST00000376585.5:c.501G>C	ENSP00000365770.1:p.Leu167=
ENST00000376590.7:c.378G>C	ENSP00000365775.3:p.Leu126=
ENST00000376592.5:c.378G>C	ENSP00000365777.1:p.Leu126=
ENST00000418034.1:c.378G>C	ENSP00000405082.1:p.Leu126=
NM_005957.4:c.378G>C , LRG_726t1:c.378G>C	NP_005948.3:p.Leu126=
XM_005263458.2:c.501G>C	XP_005263515.1:p.Leu167=
XM_005263460.3:c.378G>C	XP_005263517.1:p.Leu126=
XM_005263461.3:c.378G>C	XP_005263518.1:p.Leu126=
XM_005263462.3:c.378G>C	XP_005263519.1:p.Leu126=
XM_005263463.2:c.132G>C	XP_005263520.1:p.Leu44=
XM_011541495.1:c.498G>C	XP_011539797.1:p.Leu166=
XM_011541496.1:c.501G>C	XP_011539798.1:p.Leu167=
NM_001330358.1:c.501G>C	NP_001317287.1:p.Leu167=
XM_005263460.5:c.378G>C	XP_005263517.1:p.Leu126=
XM_005263462.4:c.378G>C	XP_005263519.1:p.Leu126=
XM_005263463.4:c.132G>C	XP_005263520.1:p.Leu44=
XM_011541495.3:c.498G>C	XP_011539797.1:p.Leu166=
XM_011541496.3:c.501G>C	XP_011539798.1:p.Leu167=
XM_017001328.2:c.501G>C	XP_016856817.1:p.Leu167=
XM_024447198.1:c.132G>C	XP_024302966.1:p.Leu44=
XR_002956640.1:n.1245G>C
NM_005957.5:c.378G>C MANE Select	NP_005948.3:p.Leu126=
NM_001330358.2:c.501G>C	NP_001317287.1:p.Leu167=