Canonical Allele Identifier: CA117413

Gene: CD207

Linked Data

• ClinVar Variation Id: 5337
• ClinVar RCV Id: RCV000005665 ; RCV001357629
• dbSNP Id: rs200837270
• ExAC: 2:71058878 A / G
• gnomAD v2: 2-71058878-A-G
• gnomAD v3: 2-70831747-A-G
• gnomAD v4: 2-70831747-A-G
• MyVariant Identifiers: chr2:g.71058878A>G (hg19) ; chr2:g.70831747A>G (hg38)
• PubMed: PMID:7798619 ; PMID:15816828 ; PMID:16567809

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