Canonical Allele Identifier: CA2626125514

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279448-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279448T>A , CM000676.2:g.91279448T>A	GRCh38
NC_000014.8:g.91745792T>A , CM000676.1:g.91745792T>A	GRCh37
NC_000014.7:g.90815545T>A	NCBI36
NG_033118.1:g.143397A>T
NG_033118.2:g.143397A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4700-142A>T MANE Select	ENSP00000374507.6:n.4700-142A>T
ENST00000331194.8:c.272-142A>T	ENSP00000330332.8:n.272-142A>T
ENST00000334448.5:n.512-142A>T
ENST00000389857.10:c.4700-142A>T	ENSP00000374507.6:n.4700-142A>T
ENST00000556726.5:c.928-142A>T
ENST00000557455.1:n.530A>T
NM_001080414.3:c.4700-142A>T	NP_001073883.2:n.4700-142A>T
XM_011536796.1:c.4592-142A>T	XP_011535098.1:n.4592-142A>T
XR_429316.2:n.4975-142A>T
XR_943459.1:n.5441A>T
XM_011536796.2:c.4592-142A>T	XP_011535098.1:n.4592-142A>T
XM_017021335.2:c.*432A>T	XP_016876824.1:n.*432A>T
XM_017021336.1:c.1781-142A>T	XP_016876825.1:n.1781-142A>T
XR_429316.4:n.4973-142A>T
NM_001080414.4:c.4700-142A>T MANE Select	NP_001073883.2:n.4700-142A>T