Canonical Allele Identifier: CA2674438772
Gene: DHFR HGNC NCBI

Linked Data

gnomAD v4: 5-80628890-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80628890G>A , CM000667.2:g.80628890G>A GRCh38
NC_000005.9:g.79924709G>A , CM000667.1:g.79924709G>A GRCh37
NC_000005.8:g.79960465G>A NCBI36
NG_023304.1:g.31092C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000439211.7:c.*197C>T MANE Select ENSP00000396308.2:n.*197C>T
ENST00000439211.6:c.*197C>T ENSP00000396308.2:n.*197C>T
ENST00000504396.1:c.*197C>T ENSP00000421334.1:n.*197C>T
ENST00000505337.5:c.*97C>T ENSP00000426474.1:n.*97C>T
ENST00000511032.5:c.*255C>T ENSP00000422732.1:n.*255C>T
ENST00000513048.5:n.642C>T
NM_000791.3:c.*197C>T NP_000782.1:n.*197C>T
NM_001290354.1:c.*197C>T NP_001277283.1:n.*197C>T
NM_001290357.1:c.*255C>T NP_001277286.1:n.*255C>T
NR_110936.1:n.1076C>T
NM_000791.4:c.*197C>T MANE Select NP_000782.1:n.*197C>T
NM_001290354.2:c.*197C>T NP_001277283.1:n.*197C>T
NM_001290357.2:c.*255C>T NP_001277286.1:n.*255C>T
NR_110936.2:n.1078C>T