Canonical Allele Identifier: CA586003187
Gene: CD274 HGNC NCBI

Linked Data

dbSNP Id: rs1463329344
gnomAD v2: 9-5468254-T-C
gnomAD v3: 9-5468254-T-C
gnomAD v4: 9-5468254-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.5468254T>C , CM000671.2:g.5468254T>C GRCh38
NC_000009.11:g.5468254T>C , CM000671.1:g.5468254T>C GRCh37
NC_000009.10:g.5458254T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000381577.4:c.*392T>C MANE Select ENSP00000370989.3:n.*392T>C
ENST00000381573.8:c.*392T>C ENSP00000370985.4:n.*392T>C
ENST00000381577.3:c.*392T>C ENSP00000370989.3:n.*392T>C
NM_001267706.1:c.*392T>C NP_001254635.1:n.*392T>C
NM_014143.3:c.*392T>C NP_054862.1:n.*392T>C
NR_052005.1:n.1200T>C
NM_014143.4:c.*392T>C MANE Select NP_054862.1:n.*392T>C
NR_052005.2:n.1161T>C
NM_001267706.2:c.*392T>C NP_001254635.1:n.*392T>C