Canonical Allele Identifier: CA347179432
Gene: CD207 HGNC NCBI

Linked Data

dbSNP Id: rs1553399832
gnomAD v2: 2-71058869-C-T
gnomAD v4: 2-70831738-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70831738C>T , CM000664.2:g.70831738C>T GRCh38
NC_000002.11:g.71058869C>T , CM000664.1:g.71058869C>T GRCh37
NC_000002.10:g.70912377C>T NCBI36
NG_033914.1:g.9086G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000410009.5:c.799G>A MANE Select ENSP00000386378.3:p.Val267Met
ENST00000410009.4:c.799G>A ENSP00000386378.3:p.Val267Met
NM_015717.4:c.799G>A NP_056532.4:p.Val267Met
XM_011532874.1:c.799G>A XP_011531176.1:p.Val267Met
XM_011532875.1:c.799G>A XP_011531177.1:p.Val267Met
XM_011532876.1:c.799G>A XP_011531178.1:p.Val267Met
XM_011532875.2:c.799G>A XP_011531177.1:p.Val267Met
XM_011532876.2:c.799G>A XP_011531178.1:p.Val267Met
NM_015717.5:c.799G>A MANE Select NP_056532.4:p.Val267Met