Canonical Allele Identifier: CA10866439
Gene: CCDC190 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.162851501A>G
GRCh37 chr1:g.162821291A>G
gnomAD v2:
1:162821291 A / G
gnomAD v3:
1:162851501 A / G
gnomAD v4:
chr1-162851501-A-G
Joint Max Group AF 0.612451 (SAS)
Genomes Max Group AF 0.612451 (SAS)
Exomes Max Group AF 0.45969469 (NFE)
dbSNP:
1912453
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.162851501A>G , CM000663.2:g.162851501A>G GRCh38
NC_000001.10:g.162821291A>G , CM000663.1:g.162821291A>G GRCh37
NC_000001.9:g.161087915A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367912.7:c.*3264T>C MANE Select ENSP00000356888.3:n.*3264T>C
ENST00000367912.6:c.*1621T>C ENSP00000356888.2:n.*1621T>C
ENST00000524691.1:n.152+4131T>C
XM_005245125.2:c.*3264T>C XP_005245182.1:n.*3264T>C
XM_006711289.2:c.*3264T>C XP_006711352.1:n.*3264T>C
XM_011509477.1:c.*3264T>C XP_011507779.1:n.*3264T>C
XR_921772.1:n.4749+15T>C
XM_005245125.3:c.*3264T>C XP_005245182.1:n.*3264T>C
XM_006711289.3:c.*3264T>C XP_006711352.1:n.*3264T>C
XM_011509477.2:c.*3264T>C XP_011507779.1:n.*3264T>C
NM_001394065.1:c.*3264T>C MANE Select NP_001380994.1:n.*3264T>C
NM_178550.6:c.*3264T>C NP_848645.3:n.*3264T>C
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