Canonical Allele Identifier: CA5510221
Gene: CCDC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.59792934G>C
GRCh37 chr10:g.61552692G>C
Revel Score:
ENST00000263102 (MANE Select) 0.211
gnomAD v2:
10:61552692 G / C
gnomAD v3:
10:59792934 G / C
gnomAD v4:
chr10-59792934-G-C
Joint Max Group AF 0.00000555 (AMR)
dbSNP:
1053266
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.59792934G>C , CM000672.2:g.59792934G>C GRCh38
NC_000010.10:g.61552692G>C , CM000672.1:g.61552692G>C GRCh37
NC_000010.9:g.61222698G>C NCBI36
NG_027819.1:g.118723C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263102.7:c.1408C>G MANE Select ENSP00000263102.6:p.Pro470Ala
ENST00000263102.6:c.1408C>G ENSP00000263102.6:p.Pro470Ala
ENST00000491922.1:n.1460C>G
NM_005436.4:c.1408C>G NP_005427.2:p.Pro470Ala
NM_005436.5:c.1408C>G MANE Select NP_005427.2:p.Pro470Ala
Search 100 bp 5'
Search 100 bp 3'