Canonical Allele Identifier: CA8238690
Gene: CDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 2351962
ClinVar RCV Id: RCV004192211
dbSNP Id: rs138610425
ExAC: 16:89245908 G / A
gnomAD v2: 16-89245908-G-A
gnomAD v3: 16-89179500-G-A
gnomAD v4: 16-89179500-G-A
MyVariant Identifiers: chr16:g.89245908G>A (hg19) chr16:g.89179500G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179500G>A , CM000678.2:g.89179500G>A GRCh38
NC_000016.9:g.89245908G>A , CM000678.1:g.89245908G>A GRCh37
NC_000016.8:g.87773409G>A NCBI36
NG_012055.1:g.12746G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.127G>A MANE Select ENSP00000289746.2:p.Val43Met
ENST00000289746.2:c.127G>A ENSP00000289746.2:p.Val43Met
ENST00000521087.5:n.192G>A
ENST00000524089.1:n.192G>A
NM_004933.2:c.127G>A NP_004924.1:p.Val43Met
XM_011522806.1:c.127G>A XP_011521108.1:p.Val43Met
NM_004933.3:c.127G>A MANE Select NP_004924.1:p.Val43Met
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