Canonical Allele Identifier: CA347179578
Gene: CD207 HGNC NCBI

Linked Data

dbSNP Id: rs1320259944
gnomAD v3: 2-70831801-C-T
gnomAD v4: 2-70831801-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831801C>T , CM000664.2:g.70831801C>T GRCh38
NC_000002.11:g.71058932C>T , CM000664.1:g.71058932C>T GRCh37
NC_000002.10:g.70912440C>T NCBI36
NG_033914.1:g.9023G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.736G>A MANE Select ENSP00000386378.3:p.Ala246Thr
ENST00000410009.4:c.736G>A ENSP00000386378.3:p.Ala246Thr
NM_015717.4:c.736G>A NP_056532.4:p.Ala246Thr
XM_011532874.1:c.736G>A XP_011531176.1:p.Ala246Thr
XM_011532875.1:c.736G>A XP_011531177.1:p.Ala246Thr
XM_011532876.1:c.736G>A XP_011531178.1:p.Ala246Thr
XM_011532875.2:c.736G>A XP_011531177.1:p.Ala246Thr
XM_011532876.2:c.736G>A XP_011531178.1:p.Ala246Thr
NM_015717.5:c.736G>A MANE Select NP_056532.4:p.Ala246Thr