Canonical Allele Identifier: CA7308899

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 447020
• ClinVar RCV Id: RCV000517919 ; RCV000886141 ; RCV002476036
• dbSNP Id: rs139544500
• ExAC: 14:91747832 C / T
• gnomAD v2: 14-91747832-C-T
• gnomAD v3: 14-91281488-C-T
• gnomAD v4: 14-91281488-C-T
• MyVariant Identifiers: chr14:g.91747832C>T (hg19) ; chr14:g.91281488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281488C>T , CM000676.2:g.91281488C>T	GRCh38
NC_000014.8:g.91747832C>T , CM000676.1:g.91747832C>T	GRCh37
NC_000014.7:g.90817585C>T	NCBI36
NG_033118.1:g.141357G>A
NG_033118.2:g.141357G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4668G>A MANE Select	ENSP00000374507.6:p.Leu1556=
ENST00000331194.8:c.240G>A	ENSP00000330332.8:p.Leu80=
ENST00000334448.5:n.333G>A
ENST00000389857.10:c.4668G>A	ENSP00000374507.6:p.Leu1556=
ENST00000556726.5:c.896G>A
NM_001080414.3:c.4668G>A	NP_001073883.2:p.Leu1556=
XM_011536796.1:c.4560G>A	XP_011535098.1:p.Leu1520=
XR_429316.2:n.4796G>A
XR_943459.1:n.4796G>A
XM_011536796.2:c.4560G>A	XP_011535098.1:p.Leu1520=
XM_017021335.2:c.4668G>A	XP_016876824.1:p.Leu1556=
XM_017021336.1:c.1749G>A	XP_016876825.1:p.Leu583=
XR_429316.4:n.4794G>A
NM_001080414.4:c.4668G>A MANE Select	NP_001073883.2:p.Leu1556=