Canonical Allele Identifier: CA171498

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 158089
• ClinVar RCV Id: RCV000145418 ; RCV001689679
• dbSNP Id: rs17127255
• ExAC: 14:91804379 G / A
• gnomAD v2: 14-91804379-G-A
• gnomAD v3: 14-91338035-G-A
• gnomAD v4: 14-91338035-G-A
• MyVariant Identifiers: chr14:g.91804379G>A (hg19) ; chr14:g.91338035G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338035G>A , CM000676.2:g.91338035G>A	GRCh38
NC_000014.8:g.91804379G>A , CM000676.1:g.91804379G>A	GRCh37
NC_000014.7:g.90874132G>A	NCBI36
NG_033118.1:g.84810C>T
NG_033118.2:g.84810C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.1020C>T MANE Select	ENSP00000374507.6:p.His340=
ENST00000389857.10:c.1020C>T	ENSP00000374507.6:p.His340=
NM_001080414.3:c.1020C>T	NP_001073883.2:p.His340=
XM_005267691.3:c.1020C>T	XP_005267748.1:p.His340=
XM_011536796.1:c.912C>T	XP_011535098.1:p.His304=
XR_429316.2:n.1148C>T
XR_943459.1:n.1148C>T
XM_005267691.5:c.1020C>T	XP_005267748.1:p.His340=
XM_011536796.2:c.912C>T	XP_011535098.1:p.His304=
XM_017021335.2:c.1020C>T	XP_016876824.1:p.His340=
XM_017021337.2:c.1020C>T	XP_016876826.1:p.His340=
XR_429316.4:n.1146C>T
NM_001080414.4:c.1020C>T MANE Select	NP_001073883.2:p.His340=