Canonical Allele Identifier: CA1153798687

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11794385_11794387delinsCGA , CM000663.2:g.11794385_11794387delinsCGA	GRCh38
NC_000001.10:g.11854442_11854444delinsCGA , CM000663.1:g.11854442_11854444delinsCGA	GRCh37
NC_000001.9:g.11777029_11777031delinsCGA	NCBI36
NG_013351.1:g.16717_16719delinsTCG , LRG_726:g.16717_16719delinsTCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376585.6:c.1441_1443delinsTCG	ENSP00000365770.1:p.Ser481=
ENST00000376590.9:c.1318_1320delinsTCG MANE Select	ENSP00000365775.3:p.Ser440=
ENST00000376592.6:c.1318_1320delinsTCG	ENSP00000365777.1:p.Ser440=
ENST00000423400.7:c.1438_1440delinsTCG	ENSP00000398908.3:p.Ser480=
ENST00000641407.1:c.1318_1320delinsTCG	ENSP00000493098.1:p.Ser440=
ENST00000641446.1:c.1318_1320delinsTCG	ENSP00000493262.1:p.Ser440=
ENST00000641747.1:c.*830_*832delinsTCG	ENSP00000493116.1:n.*830_*832delinsTCG
ENST00000641759.1:n.1687_1689delinsTCG
ENST00000641805.1:n.1835_1837delinsTCG
ENST00000641820.1:c.583_585delinsTCG	ENSP00000492937.1:p.Ser195=
ENST00000376583.7:c.1441_1443delinsTCG	ENSP00000365767.3:p.Ser481=
ENST00000376585.5:c.1441_1443delinsTCG	ENSP00000365770.1:p.Ser481=
ENST00000376590.7:c.1318_1320delinsTCG	ENSP00000365775.3:p.Ser440=
ENST00000376592.5:c.1318_1320delinsTCG	ENSP00000365777.1:p.Ser440=
NM_005957.4:c.1318_1320delinsTCG , LRG_726t1:c.1318_1320delinsTCG	NP_005948.3:p.Ser440=
XM_005263458.2:c.1441_1443delinsTCG	XP_005263515.1:p.Ser481=
XM_005263460.3:c.1318_1320delinsTCG	XP_005263517.1:p.Ser440=
XM_005263461.3:c.1318_1320delinsTCG	XP_005263518.1:p.Ser440=
XM_005263462.3:c.1318_1320delinsTCG	XP_005263519.1:p.Ser440=
XM_005263463.2:c.1072_1074delinsTCG	XP_005263520.1:p.Ser358=
XM_011541495.1:c.1438_1440delinsTCG	XP_011539797.1:p.Ser480=
XM_011541496.1:c.1441_1443delinsTCG	XP_011539798.1:p.Ser481=
NM_001330358.1:c.1441_1443delinsTCG	NP_001317287.1:p.Ser481=
XM_005263460.5:c.1318_1320delinsTCG	XP_005263517.1:p.Ser440=
XM_005263462.4:c.1318_1320delinsTCG	XP_005263519.1:p.Ser440=
XM_005263463.4:c.1072_1074delinsTCG	XP_005263520.1:p.Ser358=
XM_011541495.3:c.1438_1440delinsTCG	XP_011539797.1:p.Ser480=
XM_011541496.3:c.1441_1443delinsTCG	XP_011539798.1:p.Ser481=
XM_017001328.2:c.1441_1443delinsTCG	XP_016856817.1:p.Ser481=
XM_024447198.1:c.1072_1074delinsTCG	XP_024302966.1:p.Ser358=
XR_002956640.1:n.2419_2421delinsTCG
NM_005957.5:c.1318_1320delinsTCG MANE Select	NP_005948.3:p.Ser440=
NM_001330358.2:c.1441_1443delinsTCG	NP_001317287.1:p.Ser481=