Canonical Allele Identifier: CA390610876

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273612-G-C
• MyVariant Identifiers: chr14:g.91739956G>C (hg19) ; chr14:g.91273612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273612G>C , CM000676.2:g.91273612G>C	GRCh38
NC_000014.8:g.91739956G>C , CM000676.1:g.91739956G>C	GRCh37
NC_000014.7:g.90809709G>C	NCBI36
NG_033118.1:g.149233C>G
NG_033118.2:g.149233C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5100C>G MANE Select	ENSP00000374507.6:p.Phe1700Leu
ENST00000331194.8:c.672C>G	ENSP00000330332.8:p.Phe224Leu
ENST00000334448.5:n.912C>G
ENST00000389857.10:c.5100C>G	ENSP00000374507.6:p.Phe1700Leu
ENST00000556726.5:c.1328C>G
NM_001080414.3:c.5100C>G	NP_001073883.2:p.Phe1700Leu
XM_011536796.1:c.4992C>G	XP_011535098.1:p.Phe1664Leu
XR_429316.2:n.5375C>G
XM_011536796.2:c.4992C>G	XP_011535098.1:p.Phe1664Leu
XM_017021336.1:c.2181C>G	XP_016876825.1:p.Phe727Leu
XR_429316.4:n.5373C>G
NM_001080414.4:c.5100C>G MANE Select	NP_001073883.2:p.Phe1700Leu