Canonical Allele Identifier: CA2580574809
Gene: DHFR HGNC NCBI

Linked Data

gnomAD v4: 5-80628972-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80628972T>G , CM000667.2:g.80628972T>G GRCh38
NC_000005.9:g.79924791T>G , CM000667.1:g.79924791T>G GRCh37
NC_000005.8:g.79960547T>G NCBI36
NG_023304.1:g.31010A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000439211.7:c.*115A>C MANE Select ENSP00000396308.2:n.*115A>C
ENST00000439211.6:c.*115A>C ENSP00000396308.2:n.*115A>C
ENST00000504396.1:c.*115A>C ENSP00000421334.1:n.*115A>C
ENST00000505337.5:c.*49-34A>C ENSP00000426474.1:n.*49-34A>C
ENST00000511032.5:c.*173A>C ENSP00000422732.1:n.*173A>C
ENST00000513048.5:n.560A>C
NM_000791.3:c.*115A>C NP_000782.1:n.*115A>C
NM_001290354.1:c.*115A>C NP_001277283.1:n.*115A>C
NM_001290357.1:c.*173A>C NP_001277286.1:n.*173A>C
NR_110936.1:n.994A>C
NM_000791.4:c.*115A>C MANE Select NP_000782.1:n.*115A>C
NM_001290354.2:c.*115A>C NP_001277283.1:n.*115A>C
NM_001290357.2:c.*173A>C NP_001277286.1:n.*173A>C
NR_110936.2:n.996A>C