Canonical Allele Identifier: CA8238694
Gene: CDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1299870
ClinVar RCV Id: RCV001730298
dbSNP Id: rs199879102
ExAC: 16:89245912 G / A
gnomAD v2: 16-89245912-G-A
gnomAD v3: 16-89179504-G-A
gnomAD v4: 16-89179504-G-A
MyVariant Identifiers: chr16:g.89245912G>A (hg19) chr16:g.89179504G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179504G>A , CM000678.2:g.89179504G>A GRCh38
NC_000016.9:g.89245912G>A , CM000678.1:g.89245912G>A GRCh37
NC_000016.8:g.87773413G>A NCBI36
NG_012055.1:g.12750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.131G>A MANE Select ENSP00000289746.2:p.Arg44Gln
ENST00000289746.2:c.131G>A ENSP00000289746.2:p.Arg44Gln
ENST00000521087.5:n.196G>A
ENST00000524089.1:n.196G>A
NM_004933.2:c.131G>A NP_004924.1:p.Arg44Gln
XM_011522806.1:c.131G>A XP_011521108.1:p.Arg44Gln
NM_004933.3:c.131G>A MANE Select NP_004924.1:p.Arg44Gln
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