Canonical Allele Identifier: CA2575602996

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1254719200
• gnomAD v4: 14-91273714-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273714G>T , CM000676.2:g.91273714G>T	GRCh38
NC_000014.8:g.91740058G>T , CM000676.1:g.91740058G>T	GRCh37
NC_000014.7:g.90809811G>T	NCBI36
NG_033118.1:g.149131C>A
NG_033118.2:g.149131C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5059-61C>A MANE Select	ENSP00000374507.6:n.5059-61C>A
ENST00000331194.8:c.631-61C>A	ENSP00000330332.8:n.631-61C>A
ENST00000334448.5:n.871-61C>A
ENST00000389857.10:c.5059-61C>A	ENSP00000374507.6:n.5059-61C>A
ENST00000556726.5:c.1287-61C>A
NM_001080414.3:c.5059-61C>A	NP_001073883.2:n.5059-61C>A
XM_011536796.1:c.4951-61C>A	XP_011535098.1:n.4951-61C>A
XR_429316.2:n.5334-61C>A
XM_011536796.2:c.4951-61C>A	XP_011535098.1:n.4951-61C>A
XM_017021336.1:c.2140-61C>A	XP_016876825.1:n.2140-61C>A
XR_429316.4:n.5332-61C>A
NM_001080414.4:c.5059-61C>A MANE Select	NP_001073883.2:n.5059-61C>A