Canonical Allele Identifier: CA152232

Gene: CDH15

Linked Data

• ClinVar Variation Id: 128646
• ClinVar RCV Id: RCV000116618 ; RCV001554479 ; RCV001675616
• dbSNP Id: rs75791347
• ExAC: 16:89258747 A / C
• gnomAD v2: 16-89258747-A-C
• gnomAD v3: 16-89192339-A-C
• gnomAD v4: 16-89192339-A-C
• MyVariant Identifiers: chr16:g.89258747A>C (hg19) ; chr16:g.89192339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89192339A>C , CM000678.2:g.89192339A>C	GRCh38
NC_000016.9:g.89258747A>C , CM000678.1:g.89258747A>C	GRCh37
NC_000016.8:g.87786248A>C	NCBI36
NG_012055.1:g.25585A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289746.3:c.1750A>C MANE Select	ENSP00000289746.2:p.Lys584Gln
ENST00000289746.2:c.1750A>C	ENSP00000289746.2:p.Lys584Gln
NM_004933.2:c.1750A>C	NP_004924.1:p.Lys584Gln
XM_011522806.1:c.1750A>C	XP_011521108.1:p.Lys584Gln
NM_004933.3:c.1750A>C MANE Select	NP_004924.1:p.Lys584Gln