Canonical Allele Identifier: CA7226498

Gene: MTHFD1

Linked Data - Predicted Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64442433G>A , CM000676.2:g.64442433G>A	GRCh38
NC_000014.8:g.64909151G>A , CM000676.1:g.64909151G>A	GRCh37
NC_000014.7:g.63978904G>A	NCBI36
NG_012450.1:g.59393G>A
NG_012450.2:g.59393G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556771.6:n.367+31G>A
ENST00000557539.2:c.1893+31G>A	ENSP00000476468.2:n.1893+31G>A
ENST00000697166.1:n.2285+31G>A
ENST00000697167.1:c.*820+31G>A	ENSP00000513155.1:n.*820+31G>A
ENST00000697168.1:c.2136+31G>A	ENSP00000513156.1:n.2136+31G>A
ENST00000697169.1:c.*137+31G>A	ENSP00000513157.1:n.*137+31G>A
ENST00000697170.1:n.3300+31G>A
ENST00000697171.1:c.2136+31G>A	ENSP00000513158.1:n.2136+31G>A
ENST00000697173.1:c.1893+31G>A	ENSP00000513159.1:n.1893+31G>A
ENST00000697174.1:c.1887+31G>A	ENSP00000513160.1:n.1887+31G>A
ENST00000697175.1:c.*932+31G>A	ENSP00000513161.1:n.*932+31G>A
ENST00000697176.1:c.1893+31G>A	ENSP00000513162.1:n.1893+31G>A
ENST00000697177.1:n.591+31G>A
ENST00000545908.6:c.2136+31G>A	ENSP00000438588.2:n.2136+31G>A
ENST00000554768.6:c.1893+31G>A	ENSP00000477501.2:n.1893+31G>A
ENST00000557370.3:c.2136+31G>A	ENSP00000477199.2:n.2136+31G>A
ENST00000650853.1:n.3252+31G>A
ENST00000651537.1:c.2136+31G>A	ENSP00000498511.1:n.2136+31G>A
ENST00000652179.1:c.1893+31G>A	ENSP00000498649.1:n.1893+31G>A
ENST00000652337.1:c.2136+31G>A MANE Select	ENSP00000498336.1:n.2136+31G>A
ENST00000652509.1:c.1369+31G>A
ENST00000216605.12:c.2136+31G>A	ENSP00000216605.8:n.2136+31G>A
ENST00000545908.5:c.2304+31G>A	ENSP00000438588.1:n.2304+31G>A
ENST00000553405.1:n.458+31G>A
ENST00000556771.5:n.367+31G>A
NM_005956.3:c.2136+31G>A	NP_005947.3:n.2136+31G>A
NM_001364837.1:c.2136+31G>A	NP_001351766.1:n.2136+31G>A
NM_005956.4:c.2136+31G>A MANE Select	NP_005947.3:n.2136+31G>A