Canonical Allele Identifier: CA15362626
Gene: DHFR HGNC NCBI
MyVariant.info:
GRCh38 chr5:g.80628972T>A
GRCh37 chr5:g.79924791T>A
gnomAD v2:
5:79924791 T / A
gnomAD v3:
5:80628972 T / A
gnomAD v4:
chr5-80628972-T-A
Joint Max Group AF 0.35707379 (MID)
Genomes Max Group AF 0.30399453 (SAS)
Exomes Max Group AF 0.36206776 (MID)
dbSNP:
7387
JSON-LD

Genomic Alleles

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

Transcript Alleles

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