Canonical Allele Identifier: CA161196146

Gene: CCDC146

Linked Data

• dbSNP Id: rs986998512
• gnomAD v2: 7-76762808-A-G
• gnomAD v3: 7-77133491-A-G
• gnomAD v4: 7-77133491-A-G
• MyVariant Identifiers: chr7:g.76762808A>G (hg19) ; chr7:g.77133491A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.77133491A>G , CM000669.2:g.77133491A>G	GRCh38
NC_000007.13:g.76762808A>G , CM000669.1:g.76762808A>G	GRCh37
NC_000007.12:g.76600744A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285871.5:c.-12+10759A>G MANE Select	ENSP00000285871.4:n.-12+10759A>G
ENST00000285871.4:c.-12+10759A>G	ENSP00000285871.4:n.-12+10759A>G
ENST00000415750.5:c.-12+11023A>G	ENSP00000388649.1:n.-12+11023A>G
NM_020879.2:c.-12+10759A>G	NP_065930.2:n.-12+10759A>G
XR_927691.1:n.48-4765T>C
NM_020879.3:c.-12+10759A>G MANE Select	NP_065930.2:n.-12+10759A>G