Canonical Allele Identifier: CA121275468

Gene: DHFR

Linked Data

• dbSNP Id: rs999533627
• gnomAD v3: 5-80628997-C-G
• gnomAD v4: 5-80628997-C-G
• MyVariant Identifiers: chr5:g.79924816C>G (hg19) ; chr5:g.80628997C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80628997C>G , CM000667.2:g.80628997C>G	GRCh38
NC_000005.9:g.79924816C>G , CM000667.1:g.79924816C>G	GRCh37
NC_000005.8:g.79960572C>G	NCBI36
NG_023304.1:g.30985G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439211.7:c.*90G>C MANE Select	ENSP00000396308.2:n.*90G>C
ENST00000439211.6:c.*90G>C	ENSP00000396308.2:n.*90G>C
ENST00000504396.1:c.*90G>C	ENSP00000421334.1:n.*90G>C
ENST00000505337.5:c.*48+42G>C	ENSP00000426474.1:n.*48+42G>C
ENST00000511032.5:c.*148G>C	ENSP00000422732.1:n.*148G>C
ENST00000513048.5:n.535G>C
NM_000791.3:c.*90G>C	NP_000782.1:n.*90G>C
NM_001290354.1:c.*90G>C	NP_001277283.1:n.*90G>C
NM_001290357.1:c.*148G>C	NP_001277286.1:n.*148G>C
NR_110936.1:n.969G>C
NM_000791.4:c.*90G>C MANE Select	NP_000782.1:n.*90G>C
NM_001290354.2:c.*90G>C	NP_001277283.1:n.*90G>C
NM_001290357.2:c.*148G>C	NP_001277286.1:n.*148G>C
NR_110936.2:n.971G>C