Canonical Allele Identifier: CA2518405296

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279438-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279438G>A , CM000676.2:g.91279438G>A	GRCh38
NC_000014.8:g.91745782G>A , CM000676.1:g.91745782G>A	GRCh37
NC_000014.7:g.90815535G>A	NCBI36
NG_033118.1:g.143407C>T
NG_033118.2:g.143407C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-132C>T MANE Select	ENSP00000374507.6:n.4700-132C>T
ENST00000331194.8:c.272-132C>T	ENSP00000330332.8:n.272-132C>T
ENST00000334448.5:n.512-132C>T
ENST00000389857.10:c.4700-132C>T	ENSP00000374507.6:n.4700-132C>T
ENST00000556726.5:c.928-132C>T
ENST00000557455.1:n.540C>T
NM_001080414.3:c.4700-132C>T	NP_001073883.2:n.4700-132C>T
XM_011536796.1:c.4592-132C>T	XP_011535098.1:n.4592-132C>T
XR_429316.2:n.4975-132C>T
XR_943459.1:n.5451C>T
XM_011536796.2:c.4592-132C>T	XP_011535098.1:n.4592-132C>T
XM_017021335.2:c.*442C>T	XP_016876824.1:n.*442C>T
XM_017021336.1:c.1781-132C>T	XP_016876825.1:n.1781-132C>T
XR_429316.4:n.4973-132C>T
NM_001080414.4:c.4700-132C>T MANE Select	NP_001073883.2:n.4700-132C>T