Canonical Allele Identifier: CA7308733

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 1335158
• ClinVar RCV Id: RCV001815766 ; RCV003163957
• dbSNP Id: rs768365233
• ExAC: 14:91739954 C / T
• gnomAD v2: 14-91739954-C-T
• gnomAD v3: 14-91273610-C-T
• gnomAD v4: 14-91273610-C-T
• MyVariant Identifiers: chr14:g.91739954C>T (hg19) ; chr14:g.91273610C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273610C>T , CM000676.2:g.91273610C>T	GRCh38
NC_000014.8:g.91739954C>T , CM000676.1:g.91739954C>T	GRCh37
NC_000014.7:g.90809707C>T	NCBI36
NG_033118.1:g.149235G>A
NG_033118.2:g.149235G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5102G>A MANE Select	ENSP00000374507.6:p.Arg1701Gln
ENST00000331194.8:c.674G>A	ENSP00000330332.8:p.Arg225Gln
ENST00000334448.5:n.914G>A
ENST00000389857.10:c.5102G>A	ENSP00000374507.6:p.Arg1701Gln
ENST00000556726.5:c.1330G>A
NM_001080414.3:c.5102G>A	NP_001073883.2:p.Arg1701Gln
XM_011536796.1:c.4994G>A	XP_011535098.1:p.Arg1665Gln
XR_429316.2:n.5377G>A
XM_011536796.2:c.4994G>A	XP_011535098.1:p.Arg1665Gln
XM_017021336.1:c.2183G>A	XP_016876825.1:p.Arg728Gln
XR_429316.4:n.5375G>A
NM_001080414.4:c.5102G>A MANE Select	NP_001073883.2:p.Arg1701Gln