Canonical Allele Identifier: CA117413
Gene: CD207 HGNC NCBI

Linked Data

ClinVar Variation Id: 5337
dbSNP Id: rs200837270
gnomAD v2: 2-71058878-A-G
gnomAD v3: 2-70831747-A-G
gnomAD v4: 2-70831747-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831747A>G , CM000664.2:g.70831747A>G GRCh38
NC_000002.11:g.71058878A>G , CM000664.1:g.71058878A>G GRCh37
NC_000002.10:g.70912386A>G NCBI36
NG_033914.1:g.9077T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.790T>C MANE Select ENSP00000386378.3:p.Trp264Arg
ENST00000410009.4:c.790T>C ENSP00000386378.3:p.Trp264Arg
NM_015717.4:c.790T>C NP_056532.4:p.Trp264Arg
XM_011532874.1:c.790T>C XP_011531176.1:p.Trp264Arg
XM_011532875.1:c.790T>C XP_011531177.1:p.Trp264Arg
XM_011532876.1:c.790T>C XP_011531178.1:p.Trp264Arg
XM_011532875.2:c.790T>C XP_011531177.1:p.Trp264Arg
XM_011532876.2:c.790T>C XP_011531178.1:p.Trp264Arg
NM_015717.5:c.790T>C MANE Select NP_056532.4:p.Trp264Arg