Canonical Allele Identifier: CA615723910

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2981642
• ClinVar RCV Id: RCV003840224
• dbSNP Id: rs1362482712
• gnomAD v2: 14-91745664-G-T
• gnomAD v4: 14-91279320-G-T
• MyVariant Identifiers: chr14:g.91745664G>T (hg19) ; chr14:g.91279320G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279320G>T , CM000676.2:g.91279320G>T	GRCh38
NC_000014.8:g.91745664G>T , CM000676.1:g.91745664G>T	GRCh37
NC_000014.7:g.90815417G>T	NCBI36
NG_033118.1:g.143525C>A
NG_033118.2:g.143525C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-14C>A MANE Select	ENSP00000374507.6:n.4700-14C>A
ENST00000331194.8:c.272-14C>A	ENSP00000330332.8:n.272-14C>A
ENST00000334448.5:n.512-14C>A
ENST00000389857.10:c.4700-14C>A	ENSP00000374507.6:n.4700-14C>A
ENST00000556726.5:c.928-14C>A
ENST00000557455.1:n.658C>A
NM_001080414.3:c.4700-14C>A	NP_001073883.2:n.4700-14C>A
XM_011536796.1:c.4592-14C>A	XP_011535098.1:n.4592-14C>A
XR_429316.2:n.4975-14C>A
XM_011536796.2:c.4592-14C>A	XP_011535098.1:n.4592-14C>A
XM_017021336.1:c.1781-14C>A	XP_016876825.1:n.1781-14C>A
XR_429316.4:n.4973-14C>A
NM_001080414.4:c.4700-14C>A MANE Select	NP_001073883.2:n.4700-14C>A