Canonical Allele Identifier: CA965930334

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1891549356
• gnomAD v3: 14-91306164-A-G
• gnomAD v4: 14-91306164-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91306164A>G , CM000676.2:g.91306164A>G	GRCh38
NC_000014.8:g.91772508A>G , CM000676.1:g.91772508A>G	GRCh37
NC_000014.7:g.90842261A>G	NCBI36
NG_033118.1:g.116681T>C
NG_033118.2:g.116681T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3196-238T>C MANE Select	ENSP00000374507.6:n.3196-238T>C
ENST00000389857.10:c.3196-238T>C	ENSP00000374507.6:n.3196-238T>C
NM_001080414.3:c.3196-238T>C	NP_001073883.2:n.3196-238T>C
XM_005267691.3:c.3196-238T>C	XP_005267748.1:n.3196-238T>C
XM_011536796.1:c.3088-238T>C	XP_011535098.1:n.3088-238T>C
XR_429316.2:n.3324-238T>C
XR_943459.1:n.3324-238T>C
XM_005267691.5:c.3196-238T>C	XP_005267748.1:n.3196-238T>C
XM_011536796.2:c.3088-238T>C	XP_011535098.1:n.3088-238T>C
XM_017021335.2:c.3196-238T>C	XP_016876824.1:n.3196-238T>C
XM_017021336.1:c.277-238T>C	XP_016876825.1:n.277-238T>C
XR_429316.4:n.3322-238T>C
NM_001080414.4:c.3196-238T>C MANE Select	NP_001073883.2:n.3196-238T>C