Canonical Allele Identifier: CA390613293

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91281497-C-A
• MyVariant Identifiers: chr14:g.91747841C>A (hg19) ; chr14:g.91281497C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281497C>A , CM000676.2:g.91281497C>A	GRCh38
NC_000014.8:g.91747841C>A , CM000676.1:g.91747841C>A	GRCh37
NC_000014.7:g.90817594C>A	NCBI36
NG_033118.1:g.141348G>T
NG_033118.2:g.141348G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4659G>T MANE Select	ENSP00000374507.6:p.Glu1553Asp
ENST00000331194.8:c.231G>T	ENSP00000330332.8:p.Glu77Asp
ENST00000334448.5:n.324G>T
ENST00000389857.10:c.4659G>T	ENSP00000374507.6:p.Glu1553Asp
ENST00000556726.5:c.887G>T
NM_001080414.3:c.4659G>T	NP_001073883.2:p.Glu1553Asp
XM_011536796.1:c.4551G>T	XP_011535098.1:p.Glu1517Asp
XR_429316.2:n.4787G>T
XR_943459.1:n.4787G>T
XM_011536796.2:c.4551G>T	XP_011535098.1:p.Glu1517Asp
XM_017021335.2:c.4659G>T	XP_016876824.1:p.Glu1553Asp
XM_017021336.1:c.1740G>T	XP_016876825.1:p.Glu580Asp
XR_429316.4:n.4785G>T
NM_001080414.4:c.4659G>T MANE Select	NP_001073883.2:p.Glu1553Asp