Canonical Allele Identifier: CA2626126723
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91272358-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91272358G>C , CM000676.2:g.91272358G>C GRCh38
NC_000014.8:g.91738702G>C , CM000676.1:g.91738702G>C GRCh37
NC_000014.7:g.90808455G>C NCBI36
NG_033118.1:g.150487C>G
NG_033118.2:g.150487C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.*267C>G MANE Select ENSP00000374507.6:n.*267C>G
ENST00000331194.8:c.*267C>G ENSP00000330332.8:n.*267C>G
ENST00000389857.10:c.*267C>G ENSP00000374507.6:n.*267C>G
ENST00000556726.5:c.2582C>G
NM_001080414.3:c.*267C>G NP_001073883.2:n.*267C>G
XM_011536796.1:c.*267C>G XP_011535098.1:n.*267C>G
XM_011536796.2:c.*267C>G XP_011535098.1:n.*267C>G
XM_017021336.1:c.*267C>G XP_016876825.1:n.*267C>G
NM_001080414.4:c.*267C>G MANE Select NP_001073883.2:n.*267C>G
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