Canonical Allele Identifier: CA602731659
Gene: CCDC77 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.442384G>C
GRCh37 chr12:g.551550G>C
gnomAD v2:
12:551550 G / C
gnomAD v3:
12:442384 G / C
gnomAD v4:
chr12-442384-G-C
Joint Max Group AF 0.00006811 (EAS)
Genomes Max Group AF 0.00006844 (EAS)
dbSNP:
1048466
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.442384G>C , CM000674.2:g.442384G>C GRCh38
NC_000012.11:g.551550G>C , CM000674.1:g.551550G>C GRCh37
NC_000012.10:g.421811G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000239830.9:c.*464G>C MANE Select ENSP00000239830.4:n.*464G>C
ENST00000239830.8:c.*464G>C ENSP00000239830.4:n.*464G>C
ENST00000412006.6:c.*464G>C ENSP00000412925.2:n.*464G>C
ENST00000422000.5:c.*464G>C ENSP00000391870.1:n.*464G>C
ENST00000537286.1:n.705G>C
NM_001130146.1:c.*464G>C NP_001123618.1:n.*464G>C
NM_001130147.1:c.*464G>C NP_001123619.1:n.*464G>C
NM_001130148.1:c.*464G>C NP_001123620.1:n.*464G>C
NM_032358.3:c.*464G>C NP_115734.1:n.*464G>C
NM_032358.4:c.*464G>C MANE Select NP_115734.1:n.*464G>C
NM_001130146.2:c.*464G>C NP_001123618.1:n.*464G>C
NM_001130148.2:c.*464G>C NP_001123620.1:n.*464G>C
NM_001130147.2:c.*464G>C NP_001123619.1:n.*464G>C
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