Canonical Allele Identifier: CA7309172

Gene: CCDC88C

Linked Data

• dbSNP Id: rs200284075
• ExAC: 14:91763642 G / A
• gnomAD v2: 14-91763642-G-A
• gnomAD v3: 14-91297298-G-A
• gnomAD v4: 14-91297298-G-A
• MyVariant Identifiers: chr14:g.91763642G>A (hg19) ; chr14:g.91297298G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91297298G>A , CM000676.2:g.91297298G>A	GRCh38
NC_000014.8:g.91763642G>A , CM000676.1:g.91763642G>A	GRCh37
NC_000014.7:g.90833395G>A	NCBI36
NG_033118.1:g.125547C>T
NG_033118.2:g.125547C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.3966+7C>T MANE Select	ENSP00000374507.6:n.3966+7C>T
ENST00000389857.10:c.3966+7C>T	ENSP00000374507.6:n.3966+7C>T
NM_001080414.3:c.3966+7C>T	NP_001073883.2:n.3966+7C>T
XM_005267691.3:c.3966+7C>T	XP_005267748.1:n.3966+7C>T
XM_011536796.1:c.3858+7C>T	XP_011535098.1:n.3858+7C>T
XR_429316.2:n.4094+7C>T
XR_943459.1:n.4094+7C>T
XM_005267691.5:c.3966+7C>T	XP_005267748.1:n.3966+7C>T
XM_011536796.2:c.3858+7C>T	XP_011535098.1:n.3858+7C>T
XM_017021335.2:c.3966+7C>T	XP_016876824.1:n.3966+7C>T
XM_017021336.1:c.1047+7C>T	XP_016876825.1:n.1047+7C>T
XR_429316.4:n.4092+7C>T
NM_001080414.4:c.3966+7C>T MANE Select	NP_001073883.2:n.3966+7C>T