Canonical Allele Identifier: CA121282911
Gene: DHFR HGNC NCBI

Linked Data

dbSNP Id: rs909420255
gnomAD v3: 5-80643576-C-G
gnomAD v4: 5-80643576-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80643576C>G , CM000667.2:g.80643576C>G GRCh38
NC_000005.9:g.79939395C>G , CM000667.1:g.79939395C>G GRCh37
NC_000005.8:g.79975151C>G NCBI36
NG_023304.1:g.16406G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000439211.7:c.243-5567G>C MANE Select ENSP00000396308.2:n.243-5567G>C
ENST00000439211.6:c.243-5567G>C ENSP00000396308.2:n.243-5567G>C
ENST00000504396.1:c.87-5567G>C ENSP00000421334.1:n.87-5567G>C
ENST00000505337.5:c.243-5567G>C ENSP00000426474.1:n.243-5567G>C
ENST00000508282.1:n.201-5567G>C
ENST00000511032.5:c.243-5567G>C ENSP00000422732.1:n.243-5567G>C
ENST00000513048.5:n.250+5813G>C
NM_000791.3:c.243-5567G>C NP_000782.1:n.243-5567G>C
NM_001290354.1:c.87-5567G>C NP_001277283.1:n.87-5567G>C
NM_001290357.1:c.243-5567G>C NP_001277286.1:n.243-5567G>C
NR_110936.1:n.684+5813G>C
NM_000791.4:c.243-5567G>C MANE Select NP_000782.1:n.243-5567G>C
NM_001290354.2:c.87-5567G>C NP_001277283.1:n.87-5567G>C
NM_001290357.2:c.243-5567G>C NP_001277286.1:n.243-5567G>C
NR_110936.2:n.686+5813G>C