Canonical Allele Identifier: CA265568961

Gene: CCDC88C

Linked Data

• dbSNP Id: rs547532394
• gnomAD v3: 14-91312920-G-C
• gnomAD v4: 14-91312920-G-C
• MyVariant Identifiers: chr14:g.91779264G>C (hg19) ; chr14:g.91312920G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91312920G>C , CM000676.2:g.91312920G>C	GRCh38
NC_000014.8:g.91779264G>C , CM000676.1:g.91779264G>C	GRCh37
NC_000014.7:g.90849017G>C	NCBI36
NG_033118.1:g.109925C>G
NG_033118.2:g.109925C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2736+160C>G MANE Select	ENSP00000374507.6:n.2736+160C>G
ENST00000389857.10:c.2736+160C>G	ENSP00000374507.6:n.2736+160C>G
NM_001080414.3:c.2736+160C>G	NP_001073883.2:n.2736+160C>G
XM_005267691.3:c.2736+160C>G	XP_005267748.1:n.2736+160C>G
XM_011536796.1:c.2628+160C>G	XP_011535098.1:n.2628+160C>G
XR_429316.2:n.2864+160C>G
XR_943459.1:n.2864+160C>G
XM_005267691.5:c.2736+160C>G	XP_005267748.1:n.2736+160C>G
XM_011536796.2:c.2628+160C>G	XP_011535098.1:n.2628+160C>G
XM_017021335.2:c.2736+160C>G	XP_016876824.1:n.2736+160C>G
XM_017021336.1:c.-56+160C>G	XP_016876825.1:n.-56+160C>G
XM_017021337.2:c.2736+160C>G	XP_016876826.1:n.2736+160C>G
XR_429316.4:n.2862+160C>G
NM_001080414.4:c.2736+160C>G MANE Select	NP_001073883.2:n.2736+160C>G