Canonical Allele Identifier: CA390612885

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279238-C-T
• MyVariant Identifiers: chr14:g.91745582C>T (hg19) ; chr14:g.91279238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279238C>T , CM000676.2:g.91279238C>T	GRCh38
NC_000014.8:g.91745582C>T , CM000676.1:g.91745582C>T	GRCh37
NC_000014.7:g.90815335C>T	NCBI36
NG_033118.1:g.143607G>A
NG_033118.2:g.143607G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4768G>A MANE Select	ENSP00000374507.6:p.Gly1590Ser
ENST00000331194.8:c.340G>A	ENSP00000330332.8:p.Gly114Ser
ENST00000334448.5:n.580G>A
ENST00000389857.10:c.4768G>A	ENSP00000374507.6:p.Gly1590Ser
ENST00000556726.5:c.996G>A
ENST00000557455.1:n.740G>A
NM_001080414.3:c.4768G>A	NP_001073883.2:p.Gly1590Ser
XM_011536796.1:c.4660G>A	XP_011535098.1:p.Gly1554Ser
XR_429316.2:n.5043G>A
XM_011536796.2:c.4660G>A	XP_011535098.1:p.Gly1554Ser
XM_017021336.1:c.1849G>A	XP_016876825.1:p.Gly617Ser
XR_429316.4:n.5041G>A
NM_001080414.4:c.4768G>A MANE Select	NP_001073883.2:p.Gly1590Ser