Canonical Allele Identifier: CA2626126823

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272396-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272396C>A , CM000676.2:g.91272396C>A	GRCh38
NC_000014.8:g.91738740C>A , CM000676.1:g.91738740C>A	GRCh37
NC_000014.7:g.90808493C>A	NCBI36
NG_033118.1:g.150449G>T
NG_033118.2:g.150449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*229G>T MANE Select	ENSP00000374507.6:n.*229G>T
ENST00000331194.8:c.*229G>T	ENSP00000330332.8:n.*229G>T
ENST00000389857.10:c.*229G>T	ENSP00000374507.6:n.*229G>T
ENST00000556726.5:c.2544G>T
NM_001080414.3:c.*229G>T	NP_001073883.2:n.*229G>T
XM_011536796.1:c.*229G>T	XP_011535098.1:n.*229G>T
XM_011536796.2:c.*229G>T	XP_011535098.1:n.*229G>T
XM_017021336.1:c.*229G>T	XP_016876825.1:n.*229G>T
NM_001080414.4:c.*229G>T MANE Select	NP_001073883.2:n.*229G>T