Canonical Allele Identifier: CA2154899727

Gene: CCDC88C

Linked Data

• dbSNP Id: rs573166187
• gnomAD v4: 14-91272444-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272444C>A , CM000676.2:g.91272444C>A	GRCh38
NC_000014.8:g.91738788C>A , CM000676.1:g.91738788C>A	GRCh37
NC_000014.7:g.90808541C>A	NCBI36
NG_033118.1:g.150401G>T
NG_033118.2:g.150401G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*181G>T MANE Select	ENSP00000374507.6:n.*181G>T
ENST00000331194.8:c.*181G>T	ENSP00000330332.8:n.*181G>T
ENST00000389857.10:c.*181G>T	ENSP00000374507.6:n.*181G>T
ENST00000556726.5:c.2496G>T
NM_001080414.3:c.*181G>T	NP_001073883.2:n.*181G>T
XM_011536796.1:c.*181G>T	XP_011535098.1:n.*181G>T
XM_011536796.2:c.*181G>T	XP_011535098.1:n.*181G>T
XM_017021336.1:c.*181G>T	XP_016876825.1:n.*181G>T
NM_001080414.4:c.*181G>T MANE Select	NP_001073883.2:n.*181G>T