Canonical Allele Identifier: CA121282913

Gene: DHFR

Linked Data

• dbSNP Id: rs560992563
• gnomAD v3: 5-80643580-C-T
• gnomAD v4: 5-80643580-C-T
• MyVariant Identifiers: chr5:g.79939399C>T (hg19) ; chr5:g.80643580C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80643580C>T , CM000667.2:g.80643580C>T	GRCh38
NC_000005.9:g.79939399C>T , CM000667.1:g.79939399C>T	GRCh37
NC_000005.8:g.79975155C>T	NCBI36
NG_023304.1:g.16402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000439211.7:c.243-5571G>A MANE Select	ENSP00000396308.2:n.243-5571G>A
ENST00000439211.6:c.243-5571G>A	ENSP00000396308.2:n.243-5571G>A
ENST00000504396.1:c.87-5571G>A	ENSP00000421334.1:n.87-5571G>A
ENST00000505337.5:c.243-5571G>A	ENSP00000426474.1:n.243-5571G>A
ENST00000508282.1:n.201-5571G>A
ENST00000511032.5:c.243-5571G>A	ENSP00000422732.1:n.243-5571G>A
ENST00000513048.5:n.250+5809G>A
NM_000791.3:c.243-5571G>A	NP_000782.1:n.243-5571G>A
NM_001290354.1:c.87-5571G>A	NP_001277283.1:n.87-5571G>A
NM_001290357.1:c.243-5571G>A	NP_001277286.1:n.243-5571G>A
NR_110936.1:n.684+5809G>A
NM_000791.4:c.243-5571G>A MANE Select	NP_000782.1:n.243-5571G>A
NM_001290354.2:c.87-5571G>A	NP_001277283.1:n.87-5571G>A
NM_001290357.2:c.243-5571G>A	NP_001277286.1:n.243-5571G>A
NR_110936.2:n.686+5809G>A