Canonical Allele Identifier: CA128553
Gene: DHFR HGNC NCBI

Linked Data

ClinVar Variation Id: 29674
ClinVar RCV Id: RCV000022525
dbSNP Id: rs121913223
gnomAD v2: 5-79929723-T-A
gnomAD v4: 5-80633904-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80633904T>A , CM000667.2:g.80633904T>A GRCh38
NC_000005.9:g.79929723T>A , CM000667.1:g.79929723T>A GRCh37
NC_000005.8:g.79965479T>A NCBI36
NG_023304.1:g.26078A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439211.7:c.458A>T MANE Select ENSP00000396308.2:p.Asp153Val
ENST00000439211.6:c.458A>T ENSP00000396308.2:p.Asp153Val
ENST00000504396.1:c.302A>T ENSP00000421334.1:p.Asp101Val
ENST00000505337.5:c.458A>T ENSP00000426474.1:p.Asp153Val
ENST00000508282.1:n.416A>T
ENST00000511032.5:c.369+3979A>T ENSP00000422732.1:n.369+3979A>T
ENST00000513048.5:n.339A>T
NM_000791.3:c.458A>T NP_000782.1:p.Asp153Val
NM_001290354.1:c.302A>T NP_001277283.1:p.Asp101Val
NM_001290357.1:c.369+3979A>T NP_001277286.1:n.369+3979A>T
NR_110936.1:n.773A>T
NM_000791.4:c.458A>T MANE Select NP_000782.1:p.Asp153Val
NM_001290354.2:c.302A>T NP_001277283.1:p.Asp101Val
NM_001290357.2:c.369+3979A>T NP_001277286.1:n.369+3979A>T
NR_110936.2:n.775A>T