Canonical Allele Identifier: CA389967280

Gene: MTHFD1

Linked Data

• gnomAD v4: 14-64411098-C-A
• MyVariant Identifiers: chr14:g.64877816C>A (hg19) ; chr14:g.64411098C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64411098C>A , CM000676.2:g.64411098C>A	GRCh38
NC_000014.8:g.64877816C>A , CM000676.1:g.64877816C>A	GRCh37
NC_000014.7:g.63947569C>A	NCBI36
NG_012450.1:g.28058C>A
NG_012450.2:g.28058C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555858.2:n.284C>A
ENST00000557539.2:c.-109C>A	ENSP00000476468.2:n.-109C>A
ENST00000697166.1:n.284C>A
ENST00000697167.1:c.135C>A	ENSP00000513155.1:p.Asn45Lys
ENST00000697168.1:c.135C>A	ENSP00000513156.1:p.Asn45Lys
ENST00000697169.1:c.135C>A	ENSP00000513157.1:p.Asn45Lys
ENST00000697170.1:n.284C>A
ENST00000697171.1:c.135C>A	ENSP00000513158.1:p.Asn45Lys
ENST00000697173.1:c.-109C>A	ENSP00000513159.1:n.-109C>A
ENST00000697174.1:c.135C>A	ENSP00000513160.1:p.Asn45Lys
ENST00000697175.1:c.-245C>A	ENSP00000513161.1:n.-245C>A
ENST00000697176.1:c.-109C>A	ENSP00000513162.1:n.-109C>A
ENST00000545908.6:c.135C>A	ENSP00000438588.2:p.Asn45Lys
ENST00000554768.6:c.-109C>A	ENSP00000477501.2:n.-109C>A
ENST00000555709.7:c.135C>A	ENSP00000450560.3:p.Asn45Lys
ENST00000557370.3:c.135C>A	ENSP00000477199.2:p.Asn45Lys
ENST00000650853.1:n.210C>A
ENST00000651537.1:c.135C>A	ENSP00000498511.1:p.Asn45Lys
ENST00000652179.1:c.-109C>A	ENSP00000498649.1:n.-109C>A
ENST00000652337.1:c.135C>A MANE Select	ENSP00000498336.1:p.Asn45Lys
ENST00000216605.12:c.135C>A	ENSP00000216605.8:p.Asn45Lys
ENST00000545908.5:c.303C>A	ENSP00000438588.1:p.Asn101Lys
ENST00000554739.5:c.-109C>A	ENSP00000477359.1:n.-109C>A
ENST00000554768.5:c.-109C>A	ENSP00000477501.1:n.-109C>A
ENST00000555252.5:n.244-1374C>A
ENST00000555709.6:c.303C>A	ENSP00000450560.2:p.Asn101Lys
ENST00000557539.1:c.-109C>A	ENSP00000476468.1:n.-109C>A
NM_005956.3:c.135C>A	NP_005947.3:p.Asn45Lys
NM_001364837.1:c.135C>A	NP_001351766.1:p.Asn45Lys
NM_005956.4:c.135C>A MANE Select	NP_005947.3:p.Asn45Lys