Canonical Allele Identifier: CA2580088345

Gene: MTHFD1 ZBTB25

Linked Data

• ClinVar Variation Id: 1981213
• ClinVar RCV Id: RCV002751343

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64449437C>A , CM000676.2:g.64449437C>A	GRCh38
NC_000014.8:g.64916155C>A , CM000676.1:g.64916155C>A	GRCh37
NC_000014.7:g.63985908C>A	NCBI36
NG_012450.1:g.66397C>A
NG_012450.2:g.66397C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000557539.2:c.2037-8C>A (MTHFD1)	ENSP00000476468.2:n.2037-8C>A
ENST00000697166.1:n.2429-8C>A (MTHFD1)
ENST00000697167.1:c.*964-8C>A (MTHFD1)	ENSP00000513155.1:n.*964-8C>A
ENST00000697168.1:c.2280-8C>A (MTHFD1)	ENSP00000513156.1:n.2280-8C>A
ENST00000697169.1:c.*281-8C>A (MTHFD1)	ENSP00000513157.1:n.*281-8C>A
ENST00000697170.1:n.3444-8C>A (MTHFD1)
ENST00000697171.1:c.2280-8C>A (MTHFD1)	ENSP00000513158.1:n.2280-8C>A
ENST00000697173.1:c.2037-8C>A (MTHFD1)	ENSP00000513159.1:n.2037-8C>A
ENST00000697174.1:c.2031-8C>A (MTHFD1)	ENSP00000513160.1:n.2031-8C>A
ENST00000697175.1:c.*1076-8C>A (MTHFD1)	ENSP00000513161.1:n.*1076-8C>A
ENST00000697176.1:c.2036+1120C>A (MTHFD1)	ENSP00000513162.1:n.2036+1120C>A
ENST00000697177.1:n.735-8C>A (MTHFD1)
ENST00000545908.6:c.2280-8C>A (MTHFD1)	ENSP00000438588.2:n.2280-8C>A
ENST00000554768.6:c.2037-8C>A (MTHFD1)	ENSP00000477501.2:n.2037-8C>A
ENST00000557370.3:c.2280-8C>A (MTHFD1)	ENSP00000477199.2:n.2280-8C>A
ENST00000650853.1:n.3396-8C>A (MTHFD1)
ENST00000651537.1:c.2280-8C>A (MTHFD1)	ENSP00000498511.1:n.2280-8C>A
ENST00000651891.1:n.267-8C>A (MTHFD1)
ENST00000652179.1:c.2037-8C>A (MTHFD1)	ENSP00000498649.1:n.2037-8C>A
ENST00000652337.1:c.2280-8C>A (MTHFD1) MANE Select	ENSP00000498336.1:n.2280-8C>A
ENST00000652509.1:c.1513-8C>A (MTHFD1)
ENST00000216605.12:c.2280-8C>A (MTHFD1)	ENSP00000216605.8:n.2280-8C>A
ENST00000545908.5:c.2448-8C>A (MTHFD1)	ENSP00000438588.1:n.2448-8C>A
ENST00000553405.1:n.602-8C>A (MTHFD1)
ENST00000555220.5:c.*114G>T (ZBTB25)	ENSP00000450718.1:n.*114G>T
ENST00000555424.1:c.458G>T (ZBTB25)	ENSP00000451046.1:n.458G>T
NM_001304508.1:c.*114G>T (ZBTB25)	NP_001291437.1:n.*114G>T
NM_005956.3:c.2280-8C>A (MTHFD1)	NP_005947.3:n.2280-8C>A
XM_006720250.2:c.*173G>T (ZBTB25)	XP_006720313.1:n.*173G>T
NM_001364837.1:c.2280-8C>A (MTHFD1)	NP_001351766.1:n.2280-8C>A
NM_005956.4:c.2280-8C>A (MTHFD1) MANE Select	NP_005947.3:n.2280-8C>A
XM_006720250.4:c.*173G>T (ZBTB25)	XP_006720313.1:n.*173G>T