Canonical Allele Identifier: CA390610847

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 1931479
• ClinVar RCV Id: RCV002605534
• gnomAD v4: 14-91273598-T-A
• MyVariant Identifiers: chr14:g.91739942T>A (hg19) ; chr14:g.91273598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273598T>A , CM000676.2:g.91273598T>A	GRCh38
NC_000014.8:g.91739942T>A , CM000676.1:g.91739942T>A	GRCh37
NC_000014.7:g.90809695T>A	NCBI36
NG_033118.1:g.149247A>T
NG_033118.2:g.149247A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5114A>T MANE Select	ENSP00000374507.6:p.Asp1705Val
ENST00000331194.8:c.686A>T	ENSP00000330332.8:p.Asp229Val
ENST00000334448.5:n.926A>T
ENST00000389857.10:c.5114A>T	ENSP00000374507.6:p.Asp1705Val
ENST00000556726.5:c.1342A>T
NM_001080414.3:c.5114A>T	NP_001073883.2:p.Asp1705Val
XM_011536796.1:c.5006A>T	XP_011535098.1:p.Asp1669Val
XR_429316.2:n.5389A>T
XM_011536796.2:c.5006A>T	XP_011535098.1:p.Asp1669Val
XM_017021336.1:c.2195A>T	XP_016876825.1:p.Asp732Val
XR_429316.4:n.5387A>T
NM_001080414.4:c.5114A>T MANE Select	NP_001073883.2:p.Asp1705Val