Canonical Allele Identifier: CA265516782

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1024106826
• gnomAD v3: 14-91272543-C-T
• gnomAD v4: 14-91272543-C-T
• MyVariant Identifiers: chr14:g.91738887C>T (hg19) ; chr14:g.91272543C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272543C>T , CM000676.2:g.91272543C>T	GRCh38
NC_000014.8:g.91738887C>T , CM000676.1:g.91738887C>T	GRCh37
NC_000014.7:g.90808640C>T	NCBI36
NG_033118.1:g.150302G>A
NG_033118.2:g.150302G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*82G>A MANE Select	ENSP00000374507.6:n.*82G>A
ENST00000331194.8:c.*82G>A	ENSP00000330332.8:n.*82G>A
ENST00000389857.10:c.*82G>A	ENSP00000374507.6:n.*82G>A
ENST00000556726.5:c.2397G>A
NM_001080414.3:c.*82G>A	NP_001073883.2:n.*82G>A
XM_011536796.1:c.*82G>A	XP_011535098.1:n.*82G>A
XM_011536796.2:c.*82G>A	XP_011535098.1:n.*82G>A
XM_017021336.1:c.*82G>A	XP_016876825.1:n.*82G>A
NM_001080414.4:c.*82G>A MANE Select	NP_001073883.2:n.*82G>A