Canonical Allele Identifier: CA14413940
Gene: CCDC57 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.82101611C>T
GRCh37 chr17:g.80059487C>T
gnomAD v2:
17:80059487 C / T
gnomAD v3:
17:82101611 C / T
gnomAD v4:
chr17-82101611-C-T
Joint Max Group AF 0.28829435 (AFR)
Genomes Max Group AF 0.29016535 (AFR)
Exomes Max Group AF 0.28145255 (AFR)
dbSNP:
1127678
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.82101611C>T , CM000679.2:g.82101611C>T GRCh38
NC_000017.10:g.80059487C>T , CM000679.1:g.80059487C>T GRCh37
NC_000017.9:g.77652776C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000694881.1:c.*71G>A MANE Select ENSP00000511565.1:n.*71G>A
ENST00000694882.1:c.*3058G>A ENSP00000511566.1:n.*3058G>A
ENST00000389641.9:c.*71G>A ENSP00000374292.5:n.*71G>A
ENST00000665763.1:c.*71G>A ENSP00000499556.1:n.*71G>A
ENST00000389641.8:c.*71G>A ENSP00000374292.4:n.*71G>A
ENST00000392347.5:c.*71G>A ENSP00000376158.1:n.*71G>A
ENST00000583053.1:c.100-53G>A
ENST00000584717.1:n.362G>A
NM_198082.2:c.*71G>A NP_932348.2:n.*71G>A
NM_198082.3:c.*71G>A NP_932348.2:n.*71G>A
XM_017024463.2:c.*184G>A XP_016879952.1:n.*184G>A
XM_017024466.2:c.*71G>A XP_016879955.1:n.*71G>A
XM_017024479.1:c.*71G>A XP_016879968.1:n.*71G>A
XM_017024483.1:c.*71G>A XP_016879972.1:n.*71G>A
XR_001752484.1:n.3202G>A
XR_001752486.2:n.3170G>A
XR_001752487.1:n.9390G>A
XR_001752488.1:n.9559G>A
XR_001752491.1:n.9605G>A
NM_001367828.1:c.*71G>A NP_001354757.1:n.*71G>A
NM_001367828.2:c.*71G>A NP_001354757.1:n.*71G>A
NM_198082.4:c.*71G>A NP_932348.2:n.*71G>A
NM_001394669.1:c.*71G>A MANE Select NP_001381598.1:n.*71G>A
NM_001394670.1:c.*71G>A NP_001381599.1:n.*71G>A
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