Canonical Allele Identifier: CA1147748462

Gene: MTHFR

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.11805766C= , CM000663.2:g.11805766C=	GRCh38
NC_000001.10:g.11865823C= , CM000663.1:g.11865823C=	GRCh37
NC_000001.9:g.11788410C=	NCBI36
NG_008766.1:g.4617C=
NG_013351.1:g.5338G= , LRG_726:g.5338G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376486.3:c.-11+122G=	ENSP00000365669.3:n.-11+122G=
ENST00000376590.9:c.-14+122G= MANE Select	ENSP00000365775.3:n.-14+122G=
ENST00000641437.1:n.119+122G=
ENST00000641446.1:c.-14+122G=	ENSP00000493262.1:n.-14+122G=
ENST00000641747.1:c.-14+122G=	ENSP00000493116.1:n.-14+122G=
ENST00000642002.1:n.216+122G=
ENST00000376486.2:c.-14+122G=	ENSP00000365669.2:n.-14+122G=
ENST00000376590.7:c.-14+122G=	ENSP00000365775.3:n.-14+122G=
ENST00000418034.1:c.-433G=	ENSP00000405082.1:n.-433G=
NM_005957.4:c.-14+122G= , LRG_726t1:c.-14+122G=	NP_005948.3:n.-14+122G=
XM_005263460.3:c.-433G=	XP_005263517.1:n.-433G=
XM_005263461.3:c.-430G=	XP_005263518.1:n.-430G=
XM_005263462.3:c.-11+122G=	XP_005263519.1:n.-11+122G=
XM_005263463.2:c.-277+122G=	XP_005263520.1:n.-277+122G=
XM_005263460.5:c.-433G=	XP_005263517.1:n.-433G=
XM_005263462.4:c.-11+122G=	XP_005263519.1:n.-11+122G=
XM_005263463.4:c.-277+122G=	XP_005263520.1:n.-277+122G=
NM_005957.5:c.-14+122G= MANE Select	NP_005948.3:n.-14+122G=