Canonical Allele Identifier: CA8238695
Gene: CDH15 HGNC NCBI

Linked Data

ClinVar Variation Id: 444387
ClinVar RCV Id: RCV000513302
dbSNP Id: rs141170431
ExAC: 16:89245913 G / T
gnomAD v2: 16-89245913-G-T
gnomAD v3: 16-89179505-G-T
gnomAD v4: 16-89179505-G-T
MyVariant Identifiers: chr16:g.89245913G>T (hg19) chr16:g.89179505G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.89179505G>T , CM000678.2:g.89179505G>T GRCh38
NC_000016.9:g.89245913G>T , CM000678.1:g.89245913G>T GRCh37
NC_000016.8:g.87773414G>T NCBI36
NG_012055.1:g.12751G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000289746.3:c.132G>T MANE Select ENSP00000289746.2:p.Arg44=
ENST00000289746.2:c.132G>T ENSP00000289746.2:p.Arg44=
ENST00000521087.5:n.197G>T
ENST00000524089.1:n.197G>T
NM_004933.2:c.132G>T NP_004924.1:p.Arg44=
XM_011522806.1:c.132G>T XP_011521108.1:p.Arg44=
NM_004933.3:c.132G>T MANE Select NP_004924.1:p.Arg44=
Search 100 bp 5'
Search 100 bp 3'