Canonical Allele Identifier: CA2626126792
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91272379-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272379A>C , CM000676.2:g.91272379A>C GRCh38
NC_000014.8:g.91738723A>C , CM000676.1:g.91738723A>C GRCh37
NC_000014.7:g.90808476A>C NCBI36
NG_033118.1:g.150466T>G
NG_033118.2:g.150466T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*246T>G MANE Select ENSP00000374507.6:n.*246T>G
ENST00000331194.8:c.*246T>G ENSP00000330332.8:n.*246T>G
ENST00000389857.10:c.*246T>G ENSP00000374507.6:n.*246T>G
ENST00000556726.5:c.2561T>G
NM_001080414.3:c.*246T>G NP_001073883.2:n.*246T>G
XM_011536796.1:c.*246T>G XP_011535098.1:n.*246T>G
XM_011536796.2:c.*246T>G XP_011535098.1:n.*246T>G
XM_017021336.1:c.*246T>G XP_016876825.1:n.*246T>G
NM_001080414.4:c.*246T>G MANE Select NP_001073883.2:n.*246T>G
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