Canonical Allele Identifier: CA1077963419
Gene: DHFR HGNC NCBI

Linked Data

dbSNP Id: rs1747952317
gnomAD v3: 5-80628885-G-C
gnomAD v4: 5-80628885-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80628885G>C , CM000667.2:g.80628885G>C GRCh38
NC_000005.9:g.79924704G>C , CM000667.1:g.79924704G>C GRCh37
NC_000005.8:g.79960460G>C NCBI36
NG_023304.1:g.31097C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000439211.7:c.*202C>G MANE Select ENSP00000396308.2:n.*202C>G
ENST00000439211.6:c.*202C>G ENSP00000396308.2:n.*202C>G
ENST00000504396.1:c.*202C>G ENSP00000421334.1:n.*202C>G
ENST00000505337.5:c.*102C>G ENSP00000426474.1:n.*102C>G
ENST00000511032.5:c.*260C>G ENSP00000422732.1:n.*260C>G
ENST00000513048.5:n.647C>G
NM_000791.3:c.*202C>G NP_000782.1:n.*202C>G
NM_001290354.1:c.*202C>G NP_001277283.1:n.*202C>G
NM_001290357.1:c.*260C>G NP_001277286.1:n.*260C>G
NR_110936.1:n.1081C>G
NM_000791.4:c.*202C>G MANE Select NP_000782.1:n.*202C>G
NM_001290354.2:c.*202C>G NP_001277283.1:n.*202C>G
NM_001290357.2:c.*260C>G NP_001277286.1:n.*260C>G
NR_110936.2:n.1083C>G