Canonical Allele Identifier: CA709862948

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1462912116
• gnomAD v3: 14-91273745-A-T
• gnomAD v4: 14-91273745-A-T
• MyVariant Identifiers: chr14:g.91740089A>T (hg19) ; chr14:g.91273745A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273745A>T , CM000676.2:g.91273745A>T	GRCh38
NC_000014.8:g.91740089A>T , CM000676.1:g.91740089A>T	GRCh37
NC_000014.7:g.90809842A>T	NCBI36
NG_033118.1:g.149100T>A
NG_033118.2:g.149100T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-92T>A MANE Select	ENSP00000374507.6:n.5059-92T>A
ENST00000331194.8:c.631-92T>A	ENSP00000330332.8:n.631-92T>A
ENST00000334448.5:n.871-92T>A
ENST00000389857.10:c.5059-92T>A	ENSP00000374507.6:n.5059-92T>A
ENST00000556726.5:c.1287-92T>A
NM_001080414.3:c.5059-92T>A	NP_001073883.2:n.5059-92T>A
XM_011536796.1:c.4951-92T>A	XP_011535098.1:n.4951-92T>A
XR_429316.2:n.5334-92T>A
XM_011536796.2:c.4951-92T>A	XP_011535098.1:n.4951-92T>A
XM_017021336.1:c.2140-92T>A	XP_016876825.1:n.2140-92T>A
XR_429316.4:n.5332-92T>A
NM_001080414.4:c.5059-92T>A MANE Select	NP_001073883.2:n.5059-92T>A