Canonical Allele Identifier: CA1153790007

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790270_11790271delinsGC , CM000663.2:g.11790270_11790271delinsGC	GRCh38
NC_000001.10:g.11850327_11850328delinsGC , CM000663.1:g.11850327_11850328delinsGC	GRCh37
NC_000001.9:g.11772914_11772915delinsGC	NCBI36
NG_013351.1:g.20833_20834delinsGC , LRG_726:g.20833_20834delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*409_*410delinsGC	ENSP00000365770.1:n.*409_*410delinsGC
ENST00000376590.9:c.*409_*410delinsGC MANE Select	ENSP00000365775.3:n.*409_*410delinsGC
ENST00000376592.6:c.*409_*410delinsGC	ENSP00000365777.1:n.*409_*410delinsGC
ENST00000423400.7:c.*409_*410delinsGC	ENSP00000398908.3:n.*409_*410delinsGC
ENST00000641446.1:c.*839_*840delinsGC	ENSP00000493262.1:n.*839_*840delinsGC
ENST00000641747.1:c.*1892_*1893delinsGC	ENSP00000493116.1:n.*1892_*1893delinsGC
ENST00000641805.1:n.2715_2716delinsGC
ENST00000376583.7:c.2503_2504delinsGC	ENSP00000365767.3:n.2503_2504delinsGC
ENST00000376585.5:c.*409_*410delinsGC	ENSP00000365770.1:n.*409_*410delinsGC
ENST00000376590.7:c.*409_*410delinsGC	ENSP00000365775.3:n.*409_*410delinsGC
ENST00000376592.5:c.*409_*410delinsGC	ENSP00000365777.1:n.*409_*410delinsGC
NM_005957.4:c.*409_*410delinsGC , LRG_726t1:c.*409_*410delinsGC	NP_005948.3:n.*409_*410delinsGC
XM_005263458.2:c.*409_*410delinsGC	XP_005263515.1:n.*409_*410delinsGC
XM_005263460.3:c.*409_*410delinsGC	XP_005263517.1:n.*409_*410delinsGC
XM_005263461.3:c.*409_*410delinsGC	XP_005263518.1:n.*409_*410delinsGC
XM_005263462.3:c.*409_*410delinsGC	XP_005263519.1:n.*409_*410delinsGC
XM_005263463.2:c.*409_*410delinsGC	XP_005263520.1:n.*409_*410delinsGC
XM_011541495.1:c.*409_*410delinsGC	XP_011539797.1:n.*409_*410delinsGC
XM_011541496.1:c.*269_*270delinsGC	XP_011539798.1:n.*269_*270delinsGC
NM_001330358.1:c.*409_*410delinsGC	NP_001317287.1:n.*409_*410delinsGC
XM_005263460.5:c.*409_*410delinsGC	XP_005263517.1:n.*409_*410delinsGC
XM_005263462.4:c.*409_*410delinsGC	XP_005263519.1:n.*409_*410delinsGC
XM_005263463.4:c.*409_*410delinsGC	XP_005263520.1:n.*409_*410delinsGC
XM_011541495.3:c.*409_*410delinsGC	XP_011539797.1:n.*409_*410delinsGC
XM_011541496.3:c.*269_*270delinsGC	XP_011539798.1:n.*269_*270delinsGC
XM_024447198.1:c.*409_*410delinsGC	XP_024302966.1:n.*409_*410delinsGC
NM_005957.5:c.*409_*410delinsGC MANE Select	NP_005948.3:n.*409_*410delinsGC
NM_001330358.2:c.*409_*410delinsGC	NP_001317287.1:n.*409_*410delinsGC