Canonical Allele Identifier: CA426673130
Gene: CD207 HGNC NCBI

Linked Data

dbSNP Id: rs1240152250
gnomAD v2: 2-71058833-T-G
gnomAD v3: 2-70831702-T-G
gnomAD v4: 2-70831702-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831702T>G , CM000664.2:g.70831702T>G GRCh38
NC_000002.11:g.71058833T>G , CM000664.1:g.71058833T>G GRCh37
NC_000002.10:g.70912341T>G NCBI36
NG_033914.1:g.9122A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.835A>C MANE Select ENSP00000386378.3:p.Arg279=
ENST00000410009.4:c.835A>C ENSP00000386378.3:p.Arg279=
NM_015717.4:c.835A>C NP_056532.4:p.Arg279=
XM_011532874.1:c.835A>C XP_011531176.1:p.Arg279=
XM_011532875.1:c.835A>C XP_011531177.1:p.Arg279=
XM_011532876.1:c.835A>C XP_011531178.1:p.Arg279=
XM_011532875.2:c.835A>C XP_011531177.1:p.Arg279=
XM_011532876.2:c.835A>C XP_011531178.1:p.Arg279=
NM_015717.5:c.835A>C MANE Select NP_056532.4:p.Arg279=