Canonical Allele Identifier: CA616112414

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1213631753
• gnomAD v2: 14-91771998-T-C
• gnomAD v3: 14-91305654-T-C
• gnomAD v4: 14-91305654-T-C
• MyVariant Identifiers: chr14:g.91771998T>C (hg19) ; chr14:g.91305654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305654T>C , CM000676.2:g.91305654T>C	GRCh38
NC_000014.8:g.91771998T>C , CM000676.1:g.91771998T>C	GRCh37
NC_000014.7:g.90841751T>C	NCBI36
NG_033118.1:g.117191A>G
NG_033118.2:g.117191A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3357+111A>G MANE Select	ENSP00000374507.6:n.3357+111A>G
ENST00000389857.10:c.3357+111A>G	ENSP00000374507.6:n.3357+111A>G
NM_001080414.3:c.3357+111A>G	NP_001073883.2:n.3357+111A>G
XM_005267691.3:c.3357+111A>G	XP_005267748.1:n.3357+111A>G
XM_011536796.1:c.3249+111A>G	XP_011535098.1:n.3249+111A>G
XR_429316.2:n.3485+111A>G
XR_943459.1:n.3485+111A>G
XM_005267691.5:c.3357+111A>G	XP_005267748.1:n.3357+111A>G
XM_011536796.2:c.3249+111A>G	XP_011535098.1:n.3249+111A>G
XM_017021335.2:c.3357+111A>G	XP_016876824.1:n.3357+111A>G
XM_017021336.1:c.438+111A>G	XP_016876825.1:n.438+111A>G
XR_429316.4:n.3483+111A>G
NM_001080414.4:c.3357+111A>G MANE Select	NP_001073883.2:n.3357+111A>G