Canonical Allele Identifier: CA121275449

Gene: DHFR

Linked Data

• dbSNP Id: rs915561498
• gnomAD v4: 5-80628890-G-C
• MyVariant Identifiers: chr5:g.79924709G>C (hg19) ; chr5:g.80628890G>C (hg38)

Genomic Alleles

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

Transcript Alleles

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