Canonical Allele Identifier: CA2626125248

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279234-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279234T>C , CM000676.2:g.91279234T>C	GRCh38
NC_000014.8:g.91745578T>C , CM000676.1:g.91745578T>C	GRCh37
NC_000014.7:g.90815331T>C	NCBI36
NG_033118.1:g.143611A>G
NG_033118.2:g.143611A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+4A>G MANE Select	ENSP00000374507.6:n.4768+4A>G
ENST00000331194.8:c.340+4A>G	ENSP00000330332.8:n.340+4A>G
ENST00000334448.5:n.580+4A>G
ENST00000389857.10:c.4768+4A>G	ENSP00000374507.6:n.4768+4A>G
ENST00000556726.5:c.996+4A>G
ENST00000557455.1:n.740+4A>G
NM_001080414.3:c.4768+4A>G	NP_001073883.2:n.4768+4A>G
XM_011536796.1:c.4660+4A>G	XP_011535098.1:n.4660+4A>G
XR_429316.2:n.5043+4A>G
XM_011536796.2:c.4660+4A>G	XP_011535098.1:n.4660+4A>G
XM_017021336.1:c.1849+4A>G	XP_016876825.1:n.1849+4A>G
XR_429316.4:n.5041+4A>G
NM_001080414.4:c.4768+4A>G MANE Select	NP_001073883.2:n.4768+4A>G