Canonical Allele Identifier: CA152226

Gene: CDH15

Linked Data

• ClinVar Variation Id: 128643
• ClinVar RCV Id: RCV000116615 ; RCV000965337
• dbSNP Id: rs76549400
• ExAC: 16:89245934 G / A
• gnomAD v2: 16-89245934-G-A
• gnomAD v3: 16-89179526-G-A
• gnomAD v4: 16-89179526-G-A
• MyVariant Identifiers: chr16:g.89245934G>A (hg19) ; chr16:g.89179526G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89179526G>A , CM000678.2:g.89179526G>A	GRCh38
NC_000016.9:g.89245934G>A , CM000678.1:g.89245934G>A	GRCh37
NC_000016.8:g.87773435G>A	NCBI36
NG_012055.1:g.12772G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289746.3:c.153G>A MANE Select	ENSP00000289746.2:p.Pro51=
ENST00000289746.2:c.153G>A	ENSP00000289746.2:p.Pro51=
ENST00000521087.5:n.218G>A
ENST00000524089.1:n.218G>A
NM_004933.2:c.153G>A	NP_004924.1:p.Pro51=
XM_011522806.1:c.153G>A	XP_011521108.1:p.Pro51=
NM_004933.3:c.153G>A MANE Select	NP_004924.1:p.Pro51=