Canonical Allele Identifier: CA1144138471

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11790659G= , CM000663.2:g.11790659G=	GRCh38
NC_000001.10:g.11850716G= , CM000663.1:g.11850716G=	GRCh37
NC_000001.9:g.11773303G=	NCBI36
NG_013351.1:g.20445C= , LRG_726:g.20445C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000376585.6:c.*21C=	ENSP00000365770.1:n.*21C=
ENST00000376590.9:c.*21C= MANE Select	ENSP00000365775.3:n.*21C=
ENST00000376592.6:c.*21C=	ENSP00000365777.1:n.*21C=
ENST00000423400.7:c.*21C=	ENSP00000398908.3:n.*21C=
ENST00000641407.1:c.1810C=	ENSP00000493098.1:p.Arg604=
ENST00000641446.1:c.*451C=	ENSP00000493262.1:n.*451C=
ENST00000641747.1:c.*1504C=	ENSP00000493116.1:n.*1504C=
ENST00000641759.1:n.2361C=
ENST00000641805.1:n.2327C=
ENST00000641820.1:c.*21C=	ENSP00000492937.1:n.*21C=
ENST00000376583.7:c.2115C=	ENSP00000365767.3:n.2115C=
ENST00000376585.5:c.*21C=	ENSP00000365770.1:n.*21C=
ENST00000376590.7:c.*21C=	ENSP00000365775.3:n.*21C=
ENST00000376592.5:c.*21C=	ENSP00000365777.1:n.*21C=
NM_005957.4:c.*21C= , LRG_726t1:c.*21C=	NP_005948.3:n.*21C=
XM_005263458.2:c.*21C=	XP_005263515.1:n.*21C=
XM_005263460.3:c.*21C=	XP_005263517.1:n.*21C=
XM_005263461.3:c.*21C=	XP_005263518.1:n.*21C=
XM_005263462.3:c.*21C=	XP_005263519.1:n.*21C=
XM_005263463.2:c.*21C=	XP_005263520.1:n.*21C=
XM_011541495.1:c.*21C=	XP_011539797.1:n.*21C=
XM_011541496.1:c.1933C=	XP_011539798.1:p.Arg645=
NM_001330358.1:c.*21C=	NP_001317287.1:n.*21C=
XM_005263460.5:c.*21C=	XP_005263517.1:n.*21C=
XM_005263462.4:c.*21C=	XP_005263519.1:n.*21C=
XM_005263463.4:c.*21C=	XP_005263520.1:n.*21C=
XM_011541495.3:c.*21C=	XP_011539797.1:n.*21C=
XM_011541496.3:c.1933C=	XP_011539798.1:p.Arg645=
XM_017001328.2:c.*21C=	XP_016856817.1:n.*21C=
XM_024447198.1:c.*21C=	XP_024302966.1:n.*21C=
XR_002956640.1:n.2911C=
NM_005957.5:c.*21C= MANE Select	NP_005948.3:n.*21C=
NM_001330358.2:c.*21C=	NP_001317287.1:n.*21C=