Canonical Allele Identifier: CA707736931
Gene: MTHFD1 HGNC NCBI

Linked Data

dbSNP Id: rs1441664940
gnomAD v3: 14-64388231-T-A
gnomAD v4: 14-64388231-T-A
MyVariant Identifiers: chr14:g.64854949T>A (hg19) chr14:g.64388231T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64388231T>A , CM000676.2:g.64388231T>A GRCh38
NC_000014.8:g.64854949T>A , CM000676.1:g.64854949T>A GRCh37
NC_000014.7:g.63924702T>A NCBI36
NG_012450.1:g.5191T>A
NG_012450.2:g.5191T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000545908.6:c.-197T>A ENSP00000438588.2:n.-197T>A
ENST00000545908.5:c.-29T>A ENSP00000438588.1:n.-29T>A
NM_005956.3:c.-197T>A NP_005947.3:n.-197T>A
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