Canonical Allele Identifier: CA1077963476

Gene: DHFR

Linked Data

• gnomAD v3: 5-80629004-C-A
• gnomAD v4: 5-80629004-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80629004C>A , CM000667.2:g.80629004C>A	GRCh38
NC_000005.9:g.79924823C>A , CM000667.1:g.79924823C>A	GRCh37
NC_000005.8:g.79960579C>A	NCBI36
NG_023304.1:g.30978G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439211.7:c.*83G>T MANE Select	ENSP00000396308.2:n.*83G>T
ENST00000439211.6:c.*83G>T	ENSP00000396308.2:n.*83G>T
ENST00000504396.1:c.*83G>T	ENSP00000421334.1:n.*83G>T
ENST00000505337.5:c.*48+35G>T	ENSP00000426474.1:n.*48+35G>T
ENST00000511032.5:c.*141G>T	ENSP00000422732.1:n.*141G>T
ENST00000513048.5:n.528G>T
NM_000791.3:c.*83G>T	NP_000782.1:n.*83G>T
NM_001290354.1:c.*83G>T	NP_001277283.1:n.*83G>T
NM_001290357.1:c.*141G>T	NP_001277286.1:n.*141G>T
NR_110936.1:n.962G>T
NM_000791.4:c.*83G>T MANE Select	NP_000782.1:n.*83G>T
NM_001290354.2:c.*83G>T	NP_001277283.1:n.*83G>T
NM_001290357.2:c.*141G>T	NP_001277286.1:n.*141G>T
NR_110936.2:n.964G>T