Canonical Allele Identifier: CA533222124
Gene: CD207 HGNC NCBI

Linked Data

dbSNP Id: rs1008119386
gnomAD v2: 2-71058707-C-G
gnomAD v3: 2-70831576-C-G
gnomAD v4: 2-70831576-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831576C>G , CM000664.2:g.70831576C>G GRCh38
NC_000002.11:g.71058707C>G , CM000664.1:g.71058707C>G GRCh37
NC_000002.10:g.70912215C>G NCBI36
NG_033914.1:g.9248G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.836+125G>C MANE Select ENSP00000386378.3:n.836+125G>C
ENST00000410009.4:c.836+125G>C ENSP00000386378.3:n.836+125G>C
NM_015717.4:c.836+125G>C NP_056532.4:n.836+125G>C
XM_011532874.1:c.836+125G>C XP_011531176.1:n.836+125G>C
XM_011532875.1:c.836+125G>C XP_011531177.1:n.836+125G>C
XM_011532876.1:c.836+125G>C XP_011531178.1:n.836+125G>C
XM_011532875.2:c.836+125G>C XP_011531177.1:n.836+125G>C
XM_011532876.2:c.836+125G>C XP_011531178.1:n.836+125G>C
NM_015717.5:c.836+125G>C MANE Select NP_056532.4:n.836+125G>C