Canonical Allele Identifier: CA262521890
Gene: MTHFD1 HGNC NCBI

Linked Data

dbSNP Id: rs975958847
gnomAD v3: 14-64388235-G-T
gnomAD v4: 14-64388235-G-T
MyVariant Identifiers: chr14:g.64854953G>T (hg19) chr14:g.64388235G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.64388235G>T , CM000676.2:g.64388235G>T GRCh38
NC_000014.8:g.64854953G>T , CM000676.1:g.64854953G>T GRCh37
NC_000014.7:g.63924706G>T NCBI36
NG_012450.1:g.5195G>T
NG_012450.2:g.5195G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000545908.6:c.-193G>T ENSP00000438588.2:n.-193G>T
ENST00000545908.5:c.-25G>T ENSP00000438588.1:n.-25G>T
NM_005956.3:c.-193G>T NP_005947.3:n.-193G>T
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