Canonical Allele Identifier: CA2142673803

Gene: MTHFD1

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64421042C= , CM000676.2:g.64421042C=	GRCh38
NC_000014.8:g.64887760C= , CM000676.1:g.64887760C=	GRCh37
NC_000014.7:g.63957513C=	NCBI36
NG_012450.1:g.38002C=
NG_012450.2:g.38002C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000555858.2:n.876+1117C=
ENST00000557539.2:c.484+1117C=	ENSP00000476468.2:n.484+1117C=
ENST00000697166.1:n.876+1117C=
ENST00000697167.1:c.727+1117C=	ENSP00000513155.1:n.727+1117C=
ENST00000697168.1:c.727+1117C=	ENSP00000513156.1:n.727+1117C=
ENST00000697169.1:c.727+1117C=	ENSP00000513157.1:n.727+1117C=
ENST00000697170.1:n.876+1117C=
ENST00000697171.1:c.727+1117C=	ENSP00000513158.1:n.727+1117C=
ENST00000697173.1:c.484+1117C=	ENSP00000513159.1:n.484+1117C=
ENST00000697174.1:c.479-3762C=	ENSP00000513160.1:n.479-3762C=
ENST00000697175.1:c.484+1117C=	ENSP00000513161.1:n.484+1117C=
ENST00000697176.1:c.484+1117C=	ENSP00000513162.1:n.484+1117C=
ENST00000545908.6:c.727+1117C=	ENSP00000438588.2:n.727+1117C=
ENST00000554768.6:c.484+1117C=	ENSP00000477501.2:n.484+1117C=
ENST00000555709.7:c.*104+1117C=	ENSP00000450560.3:n.*104+1117C=
ENST00000557370.3:c.727+1117C=	ENSP00000477199.2:n.727+1117C=
ENST00000650853.1:n.802+1117C=
ENST00000651537.1:c.727+1117C=	ENSP00000498511.1:n.727+1117C=
ENST00000652179.1:c.484+1117C=	ENSP00000498649.1:n.484+1117C=
ENST00000652337.1:c.727+1117C= MANE Select	ENSP00000498336.1:n.727+1117C=
ENST00000652503.1:n.759C=
ENST00000216605.12:c.727+1117C=	ENSP00000216605.8:n.727+1117C=
ENST00000545908.5:c.895+1117C=	ENSP00000438588.1:n.895+1117C=
ENST00000554057.5:n.160+1117C=
ENST00000555252.5:n.784+1117C=
NM_005956.3:c.727+1117C=	NP_005947.3:n.727+1117C=
NM_001364837.1:c.727+1117C=	NP_001351766.1:n.727+1117C=
NM_005956.4:c.727+1117C= MANE Select	NP_005947.3:n.727+1117C=