Canonical Allele Identifier: CA1077969869

Gene: DHFR

Linked Data

• dbSNP Id: rs2112779910
• gnomAD v3: 5-80643465-C-A
• gnomAD v4: 5-80643465-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80643465C>A , CM000667.2:g.80643465C>A	GRCh38
NC_000005.9:g.79939284C>A , CM000667.1:g.79939284C>A	GRCh37
NC_000005.8:g.79975040C>A	NCBI36
NG_023304.1:g.16517G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000439211.7:c.243-5456G>T MANE Select	ENSP00000396308.2:n.243-5456G>T
ENST00000439211.6:c.243-5456G>T	ENSP00000396308.2:n.243-5456G>T
ENST00000504396.1:c.87-5456G>T	ENSP00000421334.1:n.87-5456G>T
ENST00000505337.5:c.243-5456G>T	ENSP00000426474.1:n.243-5456G>T
ENST00000508282.1:n.201-5456G>T
ENST00000511032.5:c.243-5456G>T	ENSP00000422732.1:n.243-5456G>T
ENST00000513048.5:n.250+5924G>T
NM_000791.3:c.243-5456G>T	NP_000782.1:n.243-5456G>T
NM_001290354.1:c.87-5456G>T	NP_001277283.1:n.87-5456G>T
NM_001290357.1:c.243-5456G>T	NP_001277286.1:n.243-5456G>T
NR_110936.1:n.684+5924G>T
NM_000791.4:c.243-5456G>T MANE Select	NP_000782.1:n.243-5456G>T
NM_001290354.2:c.87-5456G>T	NP_001277283.1:n.87-5456G>T
NM_001290357.2:c.243-5456G>T	NP_001277286.1:n.243-5456G>T
NR_110936.2:n.686+5924G>T