Canonical Allele Identifier: CA390630778

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91313574-T-C
• MyVariant Identifiers: chr14:g.91779918T>C (hg19) ; chr14:g.91313574T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313574T>C , CM000676.2:g.91313574T>C	GRCh38
NC_000014.8:g.91779918T>C , CM000676.1:g.91779918T>C	GRCh37
NC_000014.7:g.90849671T>C	NCBI36
NG_033118.1:g.109271A>G
NG_033118.2:g.109271A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2242A>G MANE Select	ENSP00000374507.6:p.Lys748Glu
ENST00000389857.10:c.2242A>G	ENSP00000374507.6:p.Lys748Glu
NM_001080414.3:c.2242A>G	NP_001073883.2:p.Lys748Glu
XM_005267691.3:c.2242A>G	XP_005267748.1:p.Lys748Glu
XM_011536796.1:c.2134A>G	XP_011535098.1:p.Lys712Glu
XR_429316.2:n.2370A>G
XR_943459.1:n.2370A>G
XM_005267691.5:c.2242A>G	XP_005267748.1:p.Lys748Glu
XM_011536796.2:c.2134A>G	XP_011535098.1:p.Lys712Glu
XM_017021335.2:c.2242A>G	XP_016876824.1:p.Lys748Glu
XM_017021337.2:c.2242A>G	XP_016876826.1:p.Lys748Glu
XR_429316.4:n.2368A>G
NM_001080414.4:c.2242A>G MANE Select	NP_001073883.2:p.Lys748Glu