Canonical Allele Identifier: CA15553319
Gene: CCN3 HGNC NCBI
MyVariant.info:
GRCh38 chr8:g.119423572C>T
GRCh37 chr8:g.120435812C>T
gnomAD v2:
8:120435812 C / T
gnomAD v3:
8:119423572 C / T
gnomAD v4:
chr8-119423572-C-T
Joint Max Group AF 0.54490333 (AFR)
Genomes Max Group AF 0.54488005 (AFR)
Exomes Max Group AF 0.34952591 (AFR)
dbSNP:
2071518
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.119423572C>T , CM000670.2:g.119423572C>T GRCh38
NC_000008.10:g.120435812C>T , CM000670.1:g.120435812C>T GRCh37
NC_000008.9:g.120504993C>T NCBI36
NG_009779.1:g.12261C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000259526.4:c.*440C>T MANE Select ENSP00000259526.3:n.*440C>T
ENST00000259526.3:c.*440C>T ENSP00000259526.3:n.*440C>T
NM_002514.3:c.*440C>T NP_002505.1:n.*440C>T
NM_002514.4:c.*440C>T MANE Select NP_002505.1:n.*440C>T
Search 100 bp 5'
Search 100 bp 3'