Canonical Allele Identifier: CA7308861

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 447021
• ClinVar RCV Id: RCV000518808 ; RCV000884076
• dbSNP Id: rs145210051
• ExAC: 14:91745643 C / T
• gnomAD: 14:91745643 C / T
• MyVariant Identifiers: chr14:g.91745643C>T (hg19) ; chr14:g.91279299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279299C>T , CM000676.2:g.91279299C>T	GRCh38
NC_000014.8:g.91745643C>T , CM000676.1:g.91745643C>T	GRCh37
NC_000014.7:g.90815396C>T	NCBI36
NG_033118.1:g.143546G>A
NG_033118.2:g.143546G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4707G>A MANE Select	ENSP00000374507.6:p.Arg1569=
ENST00000331194.8:c.279G>A	ENSP00000330332.8:p.Arg93=
ENST00000334448.5:n.519G>A
ENST00000389857.10:c.4707G>A	ENSP00000374507.6:p.Arg1569=
ENST00000556726.5:n.935G>A
ENST00000557455.1:n.679G>A
NM_001080414.3:c.4707G>A	NP_001073883.2:p.Arg1569=
XM_011536796.1:c.4599G>A	XP_011535098.1:p.Arg1533=
XR_429316.2:n.4982G>A
XM_011536796.2:c.4599G>A	XP_011535098.1:p.Arg1533=
XM_017021336.1:c.1788G>A	XP_016876825.1:p.Arg596=
XR_429316.4:n.4980G>A
NM_001080414.4:c.4707G>A MANE Select	NP_001073883.2:p.Arg1569=