Canonical Allele Identifier: CA7308744

Gene: CCDC88C

Linked Data

• dbSNP Id: rs763221917
• ExAC: 14:91740000 A / G
• gnomAD v2: 14-91740000-A-G
• gnomAD v4: 14-91273656-A-G
• MyVariant Identifiers: chr14:g.91740000A>G (hg19) ; chr14:g.91273656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273656A>G , CM000676.2:g.91273656A>G	GRCh38
NC_000014.8:g.91740000A>G , CM000676.1:g.91740000A>G	GRCh37
NC_000014.7:g.90809753A>G	NCBI36
NG_033118.1:g.149189T>C
NG_033118.2:g.149189T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-3T>C MANE Select	ENSP00000374507.6:n.5059-3T>C
ENST00000331194.8:c.631-3T>C	ENSP00000330332.8:n.631-3T>C
ENST00000334448.5:n.871-3T>C
ENST00000389857.10:c.5059-3T>C	ENSP00000374507.6:n.5059-3T>C
ENST00000556726.5:c.1287-3T>C
NM_001080414.3:c.5059-3T>C	NP_001073883.2:n.5059-3T>C
XM_011536796.1:c.4951-3T>C	XP_011535098.1:n.4951-3T>C
XR_429316.2:n.5334-3T>C
XM_011536796.2:c.4951-3T>C	XP_011535098.1:n.4951-3T>C
XM_017021336.1:c.2140-3T>C	XP_016876825.1:n.2140-3T>C
XR_429316.4:n.5332-3T>C
NM_001080414.4:c.5059-3T>C MANE Select	NP_001073883.2:n.5059-3T>C