Canonical Allele Identifier: CA2674438768

Gene: DHFR

Linked Data

• gnomAD v4: 5-80628888-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80628888G>A , CM000667.2:g.80628888G>A	GRCh38
NC_000005.9:g.79924707G>A , CM000667.1:g.79924707G>A	GRCh37
NC_000005.8:g.79960463G>A	NCBI36
NG_023304.1:g.31094C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439211.7:c.*199C>T MANE Select	ENSP00000396308.2:n.*199C>T
ENST00000439211.6:c.*199C>T	ENSP00000396308.2:n.*199C>T
ENST00000504396.1:c.*199C>T	ENSP00000421334.1:n.*199C>T
ENST00000505337.5:c.*99C>T	ENSP00000426474.1:n.*99C>T
ENST00000511032.5:c.*257C>T	ENSP00000422732.1:n.*257C>T
ENST00000513048.5:n.644C>T
NM_000791.3:c.*199C>T	NP_000782.1:n.*199C>T
NM_001290354.1:c.*199C>T	NP_001277283.1:n.*199C>T
NM_001290357.1:c.*257C>T	NP_001277286.1:n.*257C>T
NR_110936.1:n.1078C>T
NM_000791.4:c.*199C>T MANE Select	NP_000782.1:n.*199C>T
NM_001290354.2:c.*199C>T	NP_001277283.1:n.*199C>T
NM_001290357.2:c.*257C>T	NP_001277286.1:n.*257C>T
NR_110936.2:n.1080C>T