Canonical Allele Identifier: CA1153811580

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11800610_11800612delinsTAC , CM000663.2:g.11800610_11800612delinsTAC	GRCh38
NC_000001.10:g.11860667_11860669delinsTAC , CM000663.1:g.11860667_11860669delinsTAC	GRCh37
NC_000001.9:g.11783254_11783256delinsTAC	NCBI36
NG_013351.1:g.10492_10494delinsGTA , LRG_726:g.10492_10494delinsGTA

Transcript Alleles

HGVS	Amino-acid change
ENST00000376486.3:c.476-290_476-288delinsGTA	ENSP00000365669.3:n.476-290_476-288delinsGTA
ENST00000376585.6:c.599-290_599-288delinsGTA	ENSP00000365770.1:n.599-290_599-288delinsGTA
ENST00000376590.9:c.476-290_476-288delinsGTA MANE Select	ENSP00000365775.3:n.476-290_476-288delinsGTA
ENST00000376592.6:c.476-290_476-288delinsGTA	ENSP00000365777.1:n.476-290_476-288delinsGTA
ENST00000423400.7:c.596-290_596-288delinsGTA	ENSP00000398908.3:n.596-290_596-288delinsGTA
ENST00000641407.1:c.476-290_476-288delinsGTA	ENSP00000493098.1:n.476-290_476-288delinsGTA
ENST00000641437.1:n.1156_1158delinsGTA
ENST00000641446.1:c.476-290_476-288delinsGTA	ENSP00000493262.1:n.476-290_476-288delinsGTA
ENST00000641721.1:n.533-290_533-288delinsGTA
ENST00000641747.1:c.237-290_237-288delinsGTA	ENSP00000493116.1:n.237-290_237-288delinsGTA
ENST00000641759.1:n.611-290_611-288delinsGTA
ENST00000641805.1:n.759-290_759-288delinsGTA
ENST00000641909.1:n.1434_1436delinsGTA
ENST00000376583.7:c.599-290_599-288delinsGTA	ENSP00000365767.3:n.599-290_599-288delinsGTA
ENST00000376585.5:c.599-290_599-288delinsGTA	ENSP00000365770.1:n.599-290_599-288delinsGTA
ENST00000376590.7:c.476-290_476-288delinsGTA	ENSP00000365775.3:n.476-290_476-288delinsGTA
ENST00000376592.5:c.476-290_476-288delinsGTA	ENSP00000365777.1:n.476-290_476-288delinsGTA
NM_005957.4:c.476-290_476-288delinsGTA , LRG_726t1:c.476-290_476-288delinsGTA	NP_005948.3:n.476-290_476-288delinsGTA
XM_005263458.2:c.599-290_599-288delinsGTA	XP_005263515.1:n.599-290_599-288delinsGTA
XM_005263460.3:c.476-290_476-288delinsGTA	XP_005263517.1:n.476-290_476-288delinsGTA
XM_005263461.3:c.476-290_476-288delinsGTA	XP_005263518.1:n.476-290_476-288delinsGTA
XM_005263462.3:c.476-290_476-288delinsGTA	XP_005263519.1:n.476-290_476-288delinsGTA
XM_005263463.2:c.230-290_230-288delinsGTA	XP_005263520.1:n.230-290_230-288delinsGTA
XM_011541495.1:c.596-290_596-288delinsGTA	XP_011539797.1:n.596-290_596-288delinsGTA
XM_011541496.1:c.599-290_599-288delinsGTA	XP_011539798.1:n.599-290_599-288delinsGTA
NM_001330358.1:c.599-290_599-288delinsGTA	NP_001317287.1:n.599-290_599-288delinsGTA
XM_005263460.5:c.476-290_476-288delinsGTA	XP_005263517.1:n.476-290_476-288delinsGTA
XM_005263462.4:c.476-290_476-288delinsGTA	XP_005263519.1:n.476-290_476-288delinsGTA
XM_005263463.4:c.230-290_230-288delinsGTA	XP_005263520.1:n.230-290_230-288delinsGTA
XM_011541495.3:c.596-290_596-288delinsGTA	XP_011539797.1:n.596-290_596-288delinsGTA
XM_011541496.3:c.599-290_599-288delinsGTA	XP_011539798.1:n.599-290_599-288delinsGTA
XM_017001328.2:c.599-290_599-288delinsGTA	XP_016856817.1:n.599-290_599-288delinsGTA
XM_024447198.1:c.230-290_230-288delinsGTA	XP_024302966.1:n.230-290_230-288delinsGTA
XR_002956640.1:n.1343-290_1343-288delinsGTA
NM_005957.5:c.476-290_476-288delinsGTA MANE Select	NP_005948.3:n.476-290_476-288delinsGTA
NM_001330358.2:c.599-290_599-288delinsGTA	NP_001317287.1:n.599-290_599-288delinsGTA