Canonical Allele Identifier: CA8238679

Gene: CDH15

Linked Data

• ClinVar Variation Id: 3025587
• ClinVar RCV Id: RCV003884975 ; RCV003909217
• dbSNP Id: rs373216025
• ExAC: 16:89245892 G / A
• gnomAD v2: 16-89245892-G-A
• gnomAD v3: 16-89179484-G-A
• gnomAD v4: 16-89179484-G-A
• MyVariant Identifiers: chr16:g.89245892G>A (hg19) ; chr16:g.89179484G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.89179484G>A , CM000678.2:g.89179484G>A	GRCh38
NC_000016.9:g.89245892G>A , CM000678.1:g.89245892G>A	GRCh37
NC_000016.8:g.87773393G>A	NCBI36
NG_012055.1:g.12730G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000289746.3:c.111G>A MANE Select	ENSP00000289746.2:p.Ala37=
ENST00000289746.2:c.111G>A	ENSP00000289746.2:p.Ala37=
ENST00000521087.5:n.176G>A
ENST00000524089.1:n.176G>A
NM_004933.2:c.111G>A	NP_004924.1:p.Ala37=
XM_011522806.1:c.111G>A	XP_011521108.1:p.Ala37=
NM_004933.3:c.111G>A MANE Select	NP_004924.1:p.Ala37=