Canonical Allele Identifier: CA1700291
Gene: CD207 HGNC NCBI

Linked Data

dbSNP Id: rs782550563
gnomAD v2: 2-71058836-C-A
gnomAD v3: 2-70831705-C-A
gnomAD v4: 2-70831705-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831705C>A , CM000664.2:g.70831705C>A GRCh38
NC_000002.11:g.71058836C>A , CM000664.1:g.71058836C>A GRCh37
NC_000002.10:g.70912344C>A NCBI36
NG_033914.1:g.9119G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.832G>T MANE Select ENSP00000386378.3:p.Val278Leu
ENST00000410009.4:c.832G>T ENSP00000386378.3:p.Val278Leu
NM_015717.4:c.832G>T NP_056532.4:p.Val278Leu
XM_011532874.1:c.832G>T XP_011531176.1:p.Val278Leu
XM_011532875.1:c.832G>T XP_011531177.1:p.Val278Leu
XM_011532876.1:c.832G>T XP_011531178.1:p.Val278Leu
XM_011532875.2:c.832G>T XP_011531177.1:p.Val278Leu
XM_011532876.2:c.832G>T XP_011531178.1:p.Val278Leu
NM_015717.5:c.832G>T MANE Select NP_056532.4:p.Val278Leu