Canonical Allele Identifier: CA560557928

Gene: DHFR

Linked Data

• dbSNP Id: rs1175428129
• gnomAD v2: 5-79939286-C-A
• gnomAD v3: 5-80643467-C-A
• gnomAD v4: 5-80643467-C-A
• MyVariant Identifiers: chr5:g.79939286C>A (hg19) ; chr5:g.79939286_79939289delinsAAAA (hg19) ; chr5:g.80643467C>A (hg38) ; chr5:g.80643467_80643470delinsAAAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80643467C>A , CM000667.2:g.80643467C>A	GRCh38
NC_000005.9:g.79939286C>A , CM000667.1:g.79939286C>A	GRCh37
NC_000005.8:g.79975042C>A	NCBI36
NG_023304.1:g.16515G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000439211.7:c.243-5458G>T MANE Select	ENSP00000396308.2:n.243-5458G>T
ENST00000439211.6:c.243-5458G>T	ENSP00000396308.2:n.243-5458G>T
ENST00000504396.1:c.87-5458G>T	ENSP00000421334.1:n.87-5458G>T
ENST00000505337.5:c.243-5458G>T	ENSP00000426474.1:n.243-5458G>T
ENST00000508282.1:n.201-5458G>T
ENST00000511032.5:c.243-5458G>T	ENSP00000422732.1:n.243-5458G>T
ENST00000513048.5:n.250+5922G>T
NM_000791.3:c.243-5458G>T	NP_000782.1:n.243-5458G>T
NM_001290354.1:c.87-5458G>T	NP_001277283.1:n.87-5458G>T
NM_001290357.1:c.243-5458G>T	NP_001277286.1:n.243-5458G>T
NR_110936.1:n.684+5922G>T
NM_000791.4:c.243-5458G>T MANE Select	NP_000782.1:n.243-5458G>T
NM_001290354.2:c.87-5458G>T	NP_001277283.1:n.87-5458G>T
NM_001290357.2:c.243-5458G>T	NP_001277286.1:n.243-5458G>T
NR_110936.2:n.686+5922G>T