Canonical Allele Identifier: CA1077969800

Gene: DHFR

Linked Data

• dbSNP Id: rs1748590188
• gnomAD v3: 5-80643447-C-G
• gnomAD v4: 5-80643447-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80643447C>G , CM000667.2:g.80643447C>G	GRCh38
NC_000005.9:g.79939266C>G , CM000667.1:g.79939266C>G	GRCh37
NC_000005.8:g.79975022C>G	NCBI36
NG_023304.1:g.16535G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439211.7:c.243-5438G>C MANE Select	ENSP00000396308.2:n.243-5438G>C
ENST00000439211.6:c.243-5438G>C	ENSP00000396308.2:n.243-5438G>C
ENST00000504396.1:c.87-5438G>C	ENSP00000421334.1:n.87-5438G>C
ENST00000505337.5:c.243-5438G>C	ENSP00000426474.1:n.243-5438G>C
ENST00000508282.1:n.201-5438G>C
ENST00000511032.5:c.243-5438G>C	ENSP00000422732.1:n.243-5438G>C
ENST00000513048.5:n.250+5942G>C
NM_000791.3:c.243-5438G>C	NP_000782.1:n.243-5438G>C
NM_001290354.1:c.87-5438G>C	NP_001277283.1:n.87-5438G>C
NM_001290357.1:c.243-5438G>C	NP_001277286.1:n.243-5438G>C
NR_110936.1:n.684+5942G>C
NM_000791.4:c.243-5438G>C MANE Select	NP_000782.1:n.243-5438G>C
NM_001290354.2:c.87-5438G>C	NP_001277283.1:n.87-5438G>C
NM_001290357.2:c.243-5438G>C	NP_001277286.1:n.243-5438G>C
NR_110936.2:n.686+5942G>C