Canonical Allele Identifier: CA389973903

Gene: MTHFD1

Linked Data

• dbSNP Id: rs2078020338
• gnomAD v3: 14-64415668-C-T
• gnomAD v4: 14-64415668-C-T
• MyVariant Identifiers: chr14:g.64882386C>T (hg19) ; chr14:g.64415668C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.64415668C>T , CM000676.2:g.64415668C>T	GRCh38
NC_000014.8:g.64882386C>T , CM000676.1:g.64882386C>T	GRCh37
NC_000014.7:g.63952139C>T	NCBI36
NG_012450.1:g.32628C>T
NG_012450.2:g.32628C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555858.2:n.556C>T
ENST00000557539.2:c.164C>T	ENSP00000476468.2:p.Ala55Val
ENST00000697166.1:n.556C>T
ENST00000697167.1:c.407C>T	ENSP00000513155.1:p.Ala136Val
ENST00000697168.1:c.407C>T	ENSP00000513156.1:p.Ala136Val
ENST00000697169.1:c.407C>T	ENSP00000513157.1:p.Ala136Val
ENST00000697170.1:n.556C>T
ENST00000697171.1:c.407C>T	ENSP00000513158.1:p.Ala136Val
ENST00000697173.1:c.164C>T	ENSP00000513159.1:p.Ala55Val
ENST00000697174.1:c.407C>T	ENSP00000513160.1:p.Ala136Val
ENST00000697175.1:c.164C>T	ENSP00000513161.1:p.Ala55Val
ENST00000697176.1:c.164C>T	ENSP00000513162.1:p.Ala55Val
ENST00000545908.6:c.407C>T	ENSP00000438588.2:p.Ala136Val
ENST00000554768.6:c.164C>T	ENSP00000477501.2:p.Ala55Val
ENST00000555709.7:c.407C>T	ENSP00000450560.3:p.Ala136Val
ENST00000557370.3:c.407C>T	ENSP00000477199.2:p.Ala136Val
ENST00000650853.1:n.482C>T
ENST00000651537.1:c.407C>T	ENSP00000498511.1:p.Ala136Val
ENST00000652179.1:c.164C>T	ENSP00000498649.1:p.Ala55Val
ENST00000652337.1:c.407C>T MANE Select	ENSP00000498336.1:p.Ala136Val
ENST00000652503.1:n.31C>T
ENST00000216605.12:c.407C>T	ENSP00000216605.8:p.Ala136Val
ENST00000545908.5:c.575C>T	ENSP00000438588.1:p.Ala192Val
ENST00000555252.5:n.464C>T
ENST00000555709.6:c.575C>T	ENSP00000450560.2:p.Ala192Val
ENST00000557539.1:c.164C>T	ENSP00000476468.1:p.Ala55Val
NM_005956.3:c.407C>T	NP_005947.3:p.Ala136Val
NM_001364837.1:c.407C>T	NP_001351766.1:p.Ala136Val
NM_005956.4:c.407C>T MANE Select	NP_005947.3:p.Ala136Val