Canonical Allele Identifier: CA7308847

Gene: CCDC88C

Linked Data

• dbSNP Id: rs768825207
• ExAC: 14:91745584 T / A
• gnomAD v2: 14-91745584-T-A
• gnomAD v4: 14-91279240-T-A
• MyVariant Identifiers: chr14:g.91745584T>A (hg19) ; chr14:g.91279240T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279240T>A , CM000676.2:g.91279240T>A	GRCh38
NC_000014.8:g.91745584T>A , CM000676.1:g.91745584T>A	GRCh37
NC_000014.7:g.90815337T>A	NCBI36
NG_033118.1:g.143605A>T
NG_033118.2:g.143605A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4766A>T MANE Select	ENSP00000374507.6:p.Lys1589Ile
ENST00000331194.8:c.338A>T	ENSP00000330332.8:p.Lys113Ile
ENST00000334448.5:n.578A>T
ENST00000389857.10:c.4766A>T	ENSP00000374507.6:p.Lys1589Ile
ENST00000556726.5:c.994A>T
ENST00000557455.1:n.738A>T
NM_001080414.3:c.4766A>T	NP_001073883.2:p.Lys1589Ile
XM_011536796.1:c.4658A>T	XP_011535098.1:p.Lys1553Ile
XR_429316.2:n.5041A>T
XM_011536796.2:c.4658A>T	XP_011535098.1:p.Lys1553Ile
XM_017021336.1:c.1847A>T	XP_016876825.1:p.Lys616Ile
XR_429316.4:n.5039A>T
NM_001080414.4:c.4766A>T MANE Select	NP_001073883.2:p.Lys1589Ile