Canonical Allele Identifier: CA7308525

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 708836
• ClinVar RCV Id: RCV000880164 ; RCV002495340
• dbSNP Id: rs200979954
• ExAC: 14:91739029 C / T
• gnomAD v2: 14-91739029-C-T
• gnomAD v3: 14-91272685-C-T
• gnomAD v4: 14-91272685-C-T
• MyVariant Identifiers: chr14:g.91739029C>T (hg19) ; chr14:g.91272685C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272685C>T , CM000676.2:g.91272685C>T	GRCh38
NC_000014.8:g.91739029C>T , CM000676.1:g.91739029C>T	GRCh37
NC_000014.7:g.90808782C>T	NCBI36
NG_033118.1:g.150160G>A
NG_033118.2:g.150160G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6027G>A MANE Select	ENSP00000374507.6:p.Pro2009=
ENST00000331194.8:c.1461G>A	ENSP00000330332.8:p.Pro487=
ENST00000389857.10:c.6027G>A	ENSP00000374507.6:p.Pro2009=
ENST00000556726.5:c.2255G>A
NM_001080414.3:c.6027G>A	NP_001073883.2:p.Pro2009=
XM_011536796.1:c.5919G>A	XP_011535098.1:p.Pro1973=
XM_011536796.2:c.5919G>A	XP_011535098.1:p.Pro1973=
XM_017021336.1:c.3108G>A	XP_016876825.1:p.Pro1036=
NM_001080414.4:c.6027G>A MANE Select	NP_001073883.2:p.Pro2009=