Canonical Allele Identifier: CA487550488

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2783718
• ClinVar RCV Id: RCV003659925
• dbSNP Id: rs1433300592
• gnomAD v2: 14-91779574-C-T
• gnomAD v4: 14-91313230-C-T
• MyVariant Identifiers: chr14:g.91779574C>T (hg19) ; chr14:g.91313230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313230C>T , CM000676.2:g.91313230C>T	GRCh38
NC_000014.8:g.91779574C>T , CM000676.1:g.91779574C>T	GRCh37
NC_000014.7:g.90849327C>T	NCBI36
NG_033118.1:g.109615G>A
NG_033118.2:g.109615G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2586G>A MANE Select	ENSP00000374507.6:p.Leu862=
ENST00000389857.10:c.2586G>A	ENSP00000374507.6:p.Leu862=
NM_001080414.3:c.2586G>A	NP_001073883.2:p.Leu862=
XM_005267691.3:c.2586G>A	XP_005267748.1:p.Leu862=
XM_011536796.1:c.2478G>A	XP_011535098.1:p.Leu826=
XR_429316.2:n.2714G>A
XR_943459.1:n.2714G>A
XM_005267691.5:c.2586G>A	XP_005267748.1:p.Leu862=
XM_011536796.2:c.2478G>A	XP_011535098.1:p.Leu826=
XM_017021335.2:c.2586G>A	XP_016876824.1:p.Leu862=
XM_017021337.2:c.2586G>A	XP_016876826.1:p.Leu862=
XR_429316.4:n.2712G>A
NM_001080414.4:c.2586G>A MANE Select	NP_001073883.2:p.Leu862=