Canonical Allele Identifier: CA8238704
Gene: CDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 1337506
ClinVar RCV Id: RCV001820520
dbSNP Id: rs533141968
ExAC: 16:89245946 C / T
gnomAD v2: 16-89245946-C-T
gnomAD v3: 16-89179538-C-T
gnomAD v4: 16-89179538-C-T
MyVariant Identifiers: chr16:g.89245946C>T (hg19) chr16:g.89179538C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179538C>T , CM000678.2:g.89179538C>T GRCh38
NC_000016.9:g.89245946C>T , CM000678.1:g.89245946C>T GRCh37
NC_000016.8:g.87773447C>T NCBI36
NG_012055.1:g.12784C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.165C>T MANE Select ENSP00000289746.2:p.Ser55=
ENST00000289746.2:c.165C>T ENSP00000289746.2:p.Ser55=
ENST00000521087.5:n.230C>T
ENST00000524089.1:n.230C>T
NM_004933.2:c.165C>T NP_004924.1:p.Ser55=
XM_011522806.1:c.165C>T XP_011521108.1:p.Ser55=
NM_004933.3:c.165C>T MANE Select NP_004924.1:p.Ser55=
Search 100 bp 5'
Search 100 bp 3'