Canonical Allele Identifier: CA171500

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 158090
• ClinVar RCV Id: RCV000145419
• dbSNP Id: rs45437097
• ExAC: 14:91883129 G / A
• gnomAD v2: 14-91883129-G-A
• gnomAD v3: 14-91416785-G-A
• gnomAD v4: 14-91416785-G-A
• MyVariant Identifiers: chr14:g.91883129G>A (hg19) ; chr14:g.91416785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91416785G>A , CM000676.2:g.91416785G>A	GRCh38
NC_000014.8:g.91883129G>A , CM000676.1:g.91883129G>A	GRCh37
NC_000014.7:g.90952882G>A	NCBI36
NG_033118.1:g.6060C>T
NG_033118.2:g.6060C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.114C>T MANE Select	ENSP00000374507.6:p.Tyr38=
ENST00000389856.9:c.90C>T	ENSP00000374506.5:p.Tyr30=
ENST00000389857.10:c.114C>T	ENSP00000374507.6:p.Tyr38=
ENST00000553403.1:c.114C>T	ENSP00000451392.1:p.Tyr38=
ENST00000554165.1:n.102C>T
ENST00000554872.5:n.54C>T
NM_001080414.3:c.114C>T	NP_001073883.2:p.Tyr38=
XM_005267691.3:c.114C>T	XP_005267748.1:p.Tyr38=
XM_011536796.1:c.6C>T	XP_011535098.1:p.Tyr2=
XR_429316.2:n.242C>T
XR_943459.1:n.242C>T
XM_005267691.5:c.114C>T	XP_005267748.1:p.Tyr38=
XM_011536796.2:c.6C>T	XP_011535098.1:p.Tyr2=
XM_017021335.2:c.114C>T	XP_016876824.1:p.Tyr38=
XM_017021337.2:c.114C>T	XP_016876826.1:p.Tyr38=
XR_429316.4:n.240C>T
NM_001080414.4:c.114C>T MANE Select	NP_001073883.2:p.Tyr38=