Canonical Allele Identifier: CA842429945
Gene: CCDC146 HGNC NCBI

Linked Data

dbSNP Id: rs1224432146
gnomAD v3: 7-77133480-T-C
gnomAD v4: 7-77133480-T-C
MyVariant Identifiers: chr7:g.76762797T>C (hg19) chr7:g.77133480T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.77133480T>C , CM000669.2:g.77133480T>C GRCh38
NC_000007.13:g.76762797T>C , CM000669.1:g.76762797T>C GRCh37
NC_000007.12:g.76600733T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000285871.5:c.-12+10748T>C MANE Select ENSP00000285871.4:n.-12+10748T>C
ENST00000285871.4:c.-12+10748T>C ENSP00000285871.4:n.-12+10748T>C
ENST00000415750.5:c.-12+11012T>C ENSP00000388649.1:n.-12+11012T>C
NM_020879.2:c.-12+10748T>C NP_065930.2:n.-12+10748T>C
XR_927691.1:n.48-4754A>G
NM_020879.3:c.-12+10748T>C MANE Select NP_065930.2:n.-12+10748T>C
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