Canonical Allele Identifier: CA814449572

Gene: DHFR

Linked Data

• dbSNP Id: rs1333407307
• gnomAD v3: 5-80628894-T-C
• gnomAD v4: 5-80628894-T-C
• MyVariant Identifiers: chr5:g.79924713T>C (hg19) ; chr5:g.80628894T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.80628894T>C , CM000667.2:g.80628894T>C	GRCh38
NC_000005.9:g.79924713T>C , CM000667.1:g.79924713T>C	GRCh37
NC_000005.8:g.79960469T>C	NCBI36
NG_023304.1:g.31088A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000439211.7:c.*193A>G MANE Select	ENSP00000396308.2:n.*193A>G
ENST00000439211.6:c.*193A>G	ENSP00000396308.2:n.*193A>G
ENST00000504396.1:c.*193A>G	ENSP00000421334.1:n.*193A>G
ENST00000505337.5:c.*93A>G	ENSP00000426474.1:n.*93A>G
ENST00000511032.5:c.*251A>G	ENSP00000422732.1:n.*251A>G
ENST00000513048.5:n.638A>G
NM_000791.3:c.*193A>G	NP_000782.1:n.*193A>G
NM_001290354.1:c.*193A>G	NP_001277283.1:n.*193A>G
NM_001290357.1:c.*251A>G	NP_001277286.1:n.*251A>G
NR_110936.1:n.1072A>G
NM_000791.4:c.*193A>G MANE Select	NP_000782.1:n.*193A>G
NM_001290354.2:c.*193A>G	NP_001277283.1:n.*193A>G
NM_001290357.2:c.*251A>G	NP_001277286.1:n.*251A>G
NR_110936.2:n.1074A>G