Canonical Allele Identifier: CA2674438774
Gene: DHFR HGNC NCBI

Linked Data

gnomAD v4: 5-80628893-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80628893C>A , CM000667.2:g.80628893C>A GRCh38
NC_000005.9:g.79924712C>A , CM000667.1:g.79924712C>A GRCh37
NC_000005.8:g.79960468C>A NCBI36
NG_023304.1:g.31089G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000439211.7:c.*194G>T MANE Select ENSP00000396308.2:n.*194G>T
ENST00000439211.6:c.*194G>T ENSP00000396308.2:n.*194G>T
ENST00000504396.1:c.*194G>T ENSP00000421334.1:n.*194G>T
ENST00000505337.5:c.*94G>T ENSP00000426474.1:n.*94G>T
ENST00000511032.5:c.*252G>T ENSP00000422732.1:n.*252G>T
ENST00000513048.5:n.639G>T
NM_000791.3:c.*194G>T NP_000782.1:n.*194G>T
NM_001290354.1:c.*194G>T NP_001277283.1:n.*194G>T
NM_001290357.1:c.*252G>T NP_001277286.1:n.*252G>T
NR_110936.1:n.1073G>T
NM_000791.4:c.*194G>T MANE Select NP_000782.1:n.*194G>T
NM_001290354.2:c.*194G>T NP_001277283.1:n.*194G>T
NM_001290357.2:c.*252G>T NP_001277286.1:n.*252G>T
NR_110936.2:n.1075G>T