Canonical Allele Identifier: CA7308900

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2848062
• ClinVar RCV Id: RCV003693083
• dbSNP Id: rs779260729
• ExAC: 14:91747838 T / C
• gnomAD v2: 14-91747838-T-C
• gnomAD v4: 14-91281494-T-C
• MyVariant Identifiers: chr14:g.91747838T>C (hg19) ; chr14:g.91281494T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281494T>C , CM000676.2:g.91281494T>C	GRCh38
NC_000014.8:g.91747838T>C , CM000676.1:g.91747838T>C	GRCh37
NC_000014.7:g.90817591T>C	NCBI36
NG_033118.1:g.141351A>G
NG_033118.2:g.141351A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4662A>G MANE Select	ENSP00000374507.6:p.Pro1554=
ENST00000331194.8:c.234A>G	ENSP00000330332.8:p.Pro78=
ENST00000334448.5:n.327A>G
ENST00000389857.10:c.4662A>G	ENSP00000374507.6:p.Pro1554=
ENST00000556726.5:c.890A>G
NM_001080414.3:c.4662A>G	NP_001073883.2:p.Pro1554=
XM_011536796.1:c.4554A>G	XP_011535098.1:p.Pro1518=
XR_429316.2:n.4790A>G
XR_943459.1:n.4790A>G
XM_011536796.2:c.4554A>G	XP_011535098.1:p.Pro1518=
XM_017021335.2:c.4662A>G	XP_016876824.1:p.Pro1554=
XM_017021336.1:c.1743A>G	XP_016876825.1:p.Pro581=
XR_429316.4:n.4788A>G
NM_001080414.4:c.4662A>G MANE Select	NP_001073883.2:p.Pro1554=