Canonical Allele Identifier: CA2580073477
Community Standard Title: NM_000791.4(DHFR):c.485+8T>C
Gene: DHFR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.80633869A>G , CM000667.2:g.80633869A>G GRCh38
NC_000005.9:g.79929688A>G , CM000667.1:g.79929688A>G GRCh37
NC_000005.8:g.79965444A>G NCBI36
NG_023304.1:g.26113T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000791.4:c.485+8T>C MANE Select NP_000782.1:n.485+8T>C
ENST00000439211.7:c.485+8T>C MANE Select ENSP00000396308.2:n.485+8T>C
NM_000791.3:c.485+8T>C NP_000782.1:n.485+8T>C
NM_001290354.1:c.329+8T>C NP_001277283.1:n.329+8T>C
NM_001290354.2:c.329+8T>C NP_001277283.1:n.329+8T>C
NM_001290357.1:c.369+4014T>C NP_001277286.1:n.369+4014T>C
NM_001290357.2:c.369+4014T>C NP_001277286.1:n.369+4014T>C
NR_110936.1:n.800+8T>C
NR_110936.2:n.802+8T>C
ENST00000439211.6:c.485+8T>C ENSP00000396308.2:n.485+8T>C
ENST00000504396.1:c.329+8T>C ENSP00000421334.1:n.329+8T>C
ENST00000505337.5:c.485+8T>C ENSP00000426474.1:n.485+8T>C
ENST00000508282.1:n.443+8T>C
ENST00000511032.5:c.369+4014T>C ENSP00000422732.1:n.369+4014T>C
ENST00000513048.5:n.366+8T>C