Canonical Allele Identifier: CA2626125480

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279419-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279419A>C , CM000676.2:g.91279419A>C	GRCh38
NC_000014.8:g.91745763A>C , CM000676.1:g.91745763A>C	GRCh37
NC_000014.7:g.90815516A>C	NCBI36
NG_033118.1:g.143426T>G
NG_033118.2:g.143426T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-113T>G MANE Select	ENSP00000374507.6:n.4700-113T>G
ENST00000331194.8:c.272-113T>G	ENSP00000330332.8:n.272-113T>G
ENST00000334448.5:n.512-113T>G
ENST00000389857.10:c.4700-113T>G	ENSP00000374507.6:n.4700-113T>G
ENST00000556726.5:c.928-113T>G
ENST00000557455.1:n.559T>G
NM_001080414.3:c.4700-113T>G	NP_001073883.2:n.4700-113T>G
XM_011536796.1:c.4592-113T>G	XP_011535098.1:n.4592-113T>G
XR_429316.2:n.4975-113T>G
XR_943459.1:n.5470T>G
XM_011536796.2:c.4592-113T>G	XP_011535098.1:n.4592-113T>G
XM_017021335.2:c.*461T>G	XP_016876824.1:n.*461T>G
XM_017021336.1:c.1781-113T>G	XP_016876825.1:n.1781-113T>G
XR_429316.4:n.4973-113T>G
NM_001080414.4:c.4700-113T>G MANE Select	NP_001073883.2:n.4700-113T>G