Canonical Allele Identifier: CA161196148
Gene: CCDC146 HGNC NCBI

Linked Data

dbSNP Id: rs911075068
gnomAD v3: 7-77133506-C-T
gnomAD v4: 7-77133506-C-T
MyVariant Identifiers: chr7:g.76762823C>T (hg19) chr7:g.77133506C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.77133506C>T , CM000669.2:g.77133506C>T GRCh38
NC_000007.13:g.76762823C>T , CM000669.1:g.76762823C>T GRCh37
NC_000007.12:g.76600759C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000285871.5:c.-12+10774C>T MANE Select ENSP00000285871.4:n.-12+10774C>T
ENST00000285871.4:c.-12+10774C>T ENSP00000285871.4:n.-12+10774C>T
ENST00000415750.5:c.-12+11038C>T ENSP00000388649.1:n.-12+11038C>T
NM_020879.2:c.-12+10774C>T NP_065930.2:n.-12+10774C>T
XR_927691.1:n.48-4780G>A
NM_020879.3:c.-12+10774C>T MANE Select NP_065930.2:n.-12+10774C>T
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