Canonical Allele Identifier: CA265562480

Gene: CCDC88C

Linked Data

• dbSNP Id: rs553041315
• gnomAD v3: 14-91306150-T-C
• gnomAD v4: 14-91306150-T-C
• MyVariant Identifiers: chr14:g.91772494T>C (hg19) ; chr14:g.91306150T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91306150T>C , CM000676.2:g.91306150T>C	GRCh38
NC_000014.8:g.91772494T>C , CM000676.1:g.91772494T>C	GRCh37
NC_000014.7:g.90842247T>C	NCBI36
NG_033118.1:g.116695A>G
NG_033118.2:g.116695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3196-224A>G MANE Select	ENSP00000374507.6:n.3196-224A>G
ENST00000389857.10:c.3196-224A>G	ENSP00000374507.6:n.3196-224A>G
NM_001080414.3:c.3196-224A>G	NP_001073883.2:n.3196-224A>G
XM_005267691.3:c.3196-224A>G	XP_005267748.1:n.3196-224A>G
XM_011536796.1:c.3088-224A>G	XP_011535098.1:n.3088-224A>G
XR_429316.2:n.3324-224A>G
XR_943459.1:n.3324-224A>G
XM_005267691.5:c.3196-224A>G	XP_005267748.1:n.3196-224A>G
XM_011536796.2:c.3088-224A>G	XP_011535098.1:n.3088-224A>G
XM_017021335.2:c.3196-224A>G	XP_016876824.1:n.3196-224A>G
XM_017021336.1:c.277-224A>G	XP_016876825.1:n.277-224A>G
XR_429316.4:n.3322-224A>G
NM_001080414.4:c.3196-224A>G MANE Select	NP_001073883.2:n.3196-224A>G