Canonical Allele Identifier: CA161196161
Gene: CCDC146 HGNC NCBI

Linked Data

dbSNP Id: rs1047066895
gnomAD v2: 7-76762867-C-G
gnomAD v3: 7-77133550-C-G
gnomAD v4: 7-77133550-C-G
MyVariant Identifiers: chr7:g.76762867C>G (hg19) chr7:g.77133550C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.77133550C>G , CM000669.2:g.77133550C>G GRCh38
NC_000007.13:g.76762867C>G , CM000669.1:g.76762867C>G GRCh37
NC_000007.12:g.76600803C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000285871.5:c.-12+10818C>G MANE Select ENSP00000285871.4:n.-12+10818C>G
ENST00000285871.4:c.-12+10818C>G ENSP00000285871.4:n.-12+10818C>G
ENST00000415750.5:c.-12+11082C>G ENSP00000388649.1:n.-12+11082C>G
NM_020879.2:c.-12+10818C>G NP_065930.2:n.-12+10818C>G
XR_927691.1:n.48-4824G>C
NM_020879.3:c.-12+10818C>G MANE Select NP_065930.2:n.-12+10818C>G
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