Canonical Allele Identifier: CA128552
Gene: DHFR HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80649393G>A , CM000667.2:g.80649393G>A GRCh38
NC_000005.9:g.79945212G>A , CM000667.1:g.79945212G>A GRCh37
NC_000005.8:g.79980968G>A NCBI36
NG_023304.1:g.10589C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439211.7:c.238C>T MANE Select ENSP00000396308.2:p.Leu80Phe
ENST00000439211.6:c.238C>T ENSP00000396308.2:p.Leu80Phe
ENST00000504396.1:c.82C>T ENSP00000421334.1:p.Leu28Phe
ENST00000505337.5:c.238C>T ENSP00000426474.1:p.Leu80Phe
ENST00000508282.1:n.196C>T
ENST00000511032.5:c.238C>T ENSP00000422732.1:p.Leu80Phe
ENST00000513048.5:n.246C>T
ENST00000513314.1:n.130C>T
NM_000791.3:c.238C>T NP_000782.1:p.Leu80Phe
NM_001290354.1:c.82C>T NP_001277283.1:p.Leu28Phe
NM_001290357.1:c.238C>T NP_001277286.1:p.Leu80Phe
NR_110936.1:n.680C>T
NM_000791.4:c.238C>T MANE Select NP_000782.1:p.Leu80Phe
NM_001290354.2:c.82C>T NP_001277283.1:p.Leu28Phe
NM_001290357.2:c.238C>T NP_001277286.1:p.Leu80Phe
NR_110936.2:n.682C>T