Canonical Allele Identifier: CA390610674

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273515-C-A
• MyVariant Identifiers: chr14:g.91739859C>A (hg19) ; chr14:g.91273515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273515C>A , CM000676.2:g.91273515C>A	GRCh38
NC_000014.8:g.91739859C>A , CM000676.1:g.91739859C>A	GRCh37
NC_000014.7:g.90809612C>A	NCBI36
NG_033118.1:g.149330G>T
NG_033118.2:g.149330G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5197G>T MANE Select	ENSP00000374507.6:p.Val1733Phe
ENST00000331194.8:c.769G>T	ENSP00000330332.8:p.Val257Phe
ENST00000334448.5:n.1009G>T
ENST00000389857.10:c.5197G>T	ENSP00000374507.6:p.Val1733Phe
ENST00000556726.5:c.1425G>T
NM_001080414.3:c.5197G>T	NP_001073883.2:p.Val1733Phe
XM_011536796.1:c.5089G>T	XP_011535098.1:p.Val1697Phe
XR_429316.2:n.5472G>T
XM_011536796.2:c.5089G>T	XP_011535098.1:p.Val1697Phe
XM_017021336.1:c.2278G>T	XP_016876825.1:p.Val760Phe
XR_429316.4:n.5470G>T
NM_001080414.4:c.5197G>T MANE Select	NP_001073883.2:p.Val1733Phe