Canonical Allele Identifier: CA265516455

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1003997821
• gnomAD v3: 14-91272341-T-G
• gnomAD v4: 14-91272341-T-G
• MyVariant Identifiers: chr14:g.91738685T>G (hg19) ; chr14:g.91272341T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272341T>G , CM000676.2:g.91272341T>G	GRCh38
NC_000014.8:g.91738685T>G , CM000676.1:g.91738685T>G	GRCh37
NC_000014.7:g.90808438T>G	NCBI36
NG_033118.1:g.150504A>C
NG_033118.2:g.150504A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.*284A>C MANE Select	ENSP00000374507.6:n.*284A>C
ENST00000331194.8:c.*284A>C	ENSP00000330332.8:n.*284A>C
ENST00000389857.10:c.*284A>C	ENSP00000374507.6:n.*284A>C
ENST00000556726.5:c.2599A>C
NM_001080414.3:c.*284A>C	NP_001073883.2:n.*284A>C
XM_011536796.1:c.*284A>C	XP_011535098.1:n.*284A>C
XM_011536796.2:c.*284A>C	XP_011535098.1:n.*284A>C
XM_017021336.1:c.*284A>C	XP_016876825.1:n.*284A>C
NM_001080414.4:c.*284A>C MANE Select	NP_001073883.2:n.*284A>C