Canonical Allele Identifier: CA7309705

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 1298595
• ClinVar RCV Id: RCV001726925 ; RCV002539759
• dbSNP Id: rs199967225
• ExAC: 14:91779905 T / C
• gnomAD v2: 14-91779905-T-C
• gnomAD v3: 14-91313561-T-C
• gnomAD v4: 14-91313561-T-C
• MyVariant Identifiers: chr14:g.91779905T>C (hg19) ; chr14:g.91313561T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313561T>C , CM000676.2:g.91313561T>C	GRCh38
NC_000014.8:g.91779905T>C , CM000676.1:g.91779905T>C	GRCh37
NC_000014.7:g.90849658T>C	NCBI36
NG_033118.1:g.109284A>G
NG_033118.2:g.109284A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2255A>G MANE Select	ENSP00000374507.6:p.Lys752Arg
ENST00000389857.10:c.2255A>G	ENSP00000374507.6:p.Lys752Arg
NM_001080414.3:c.2255A>G	NP_001073883.2:p.Lys752Arg
XM_005267691.3:c.2255A>G	XP_005267748.1:p.Lys752Arg
XM_011536796.1:c.2147A>G	XP_011535098.1:p.Lys716Arg
XR_429316.2:n.2383A>G
XR_943459.1:n.2383A>G
XM_005267691.5:c.2255A>G	XP_005267748.1:p.Lys752Arg
XM_011536796.2:c.2147A>G	XP_011535098.1:p.Lys716Arg
XM_017021335.2:c.2255A>G	XP_016876824.1:p.Lys752Arg
XM_017021337.2:c.2255A>G	XP_016876826.1:p.Lys752Arg
XR_429316.4:n.2381A>G
NM_001080414.4:c.2255A>G MANE Select	NP_001073883.2:p.Lys752Arg