Canonical Allele Identifier: CA161196159
Gene: CCDC146 HGNC NCBI

Linked Data

dbSNP Id: rs555799920
gnomAD v2: 7-76762858-G-A
gnomAD v3: 7-77133541-G-A
gnomAD v4: 7-77133541-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.77133541G>A , CM000669.2:g.77133541G>A GRCh38
NC_000007.13:g.76762858G>A , CM000669.1:g.76762858G>A GRCh37
NC_000007.12:g.76600794G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000285871.5:c.-12+10809G>A MANE Select ENSP00000285871.4:n.-12+10809G>A
ENST00000285871.4:c.-12+10809G>A ENSP00000285871.4:n.-12+10809G>A
ENST00000415750.5:c.-12+11073G>A ENSP00000388649.1:n.-12+11073G>A
NM_020879.2:c.-12+10809G>A NP_065930.2:n.-12+10809G>A
XR_927691.1:n.48-4815C>T
NM_020879.3:c.-12+10809G>A MANE Select NP_065930.2:n.-12+10809G>A