Canonical Allele Identifier: CA2626125324
Gene: CCDC88C HGNC NCBI

Linked Data

gnomAD v4: 14-91279309-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279309G>T , CM000676.2:g.91279309G>T GRCh38
NC_000014.8:g.91745653G>T , CM000676.1:g.91745653G>T GRCh37
NC_000014.7:g.90815406G>T NCBI36
NG_033118.1:g.143536C>A
NG_033118.2:g.143536C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000389857.11:c.4700-3C>A MANE Select ENSP00000374507.6:n.4700-3C>A
ENST00000331194.8:c.272-3C>A ENSP00000330332.8:n.272-3C>A
ENST00000334448.5:n.512-3C>A
ENST00000389857.10:c.4700-3C>A ENSP00000374507.6:n.4700-3C>A
ENST00000556726.5:c.928-3C>A
ENST00000557455.1:n.669C>A
NM_001080414.3:c.4700-3C>A NP_001073883.2:n.4700-3C>A
XM_011536796.1:c.4592-3C>A XP_011535098.1:n.4592-3C>A
XR_429316.2:n.4975-3C>A
XM_011536796.2:c.4592-3C>A XP_011535098.1:n.4592-3C>A
XM_017021336.1:c.1781-3C>A XP_016876825.1:n.1781-3C>A
XR_429316.4:n.4973-3C>A
NM_001080414.4:c.4700-3C>A MANE Select NP_001073883.2:n.4700-3C>A
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