Canonical Allele Identifier: CA7308705

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2963102
• ClinVar RCV Id: RCV003822756
• dbSNP Id: rs755390490
• ExAC: 14:91739839 G / T
• gnomAD v2: 14-91739839-G-T
• gnomAD v4: 14-91273495-G-T
• MyVariant Identifiers: chr14:g.91739839G>T (hg19) ; chr14:g.91273495G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273495G>T , CM000676.2:g.91273495G>T	GRCh38
NC_000014.8:g.91739839G>T , CM000676.1:g.91739839G>T	GRCh37
NC_000014.7:g.90809592G>T	NCBI36
NG_033118.1:g.149350C>A
NG_033118.2:g.149350C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5217C>A MANE Select	ENSP00000374507.6:p.Thr1739=
ENST00000331194.8:c.789C>A	ENSP00000330332.8:p.Thr263=
ENST00000334448.5:n.1029C>A
ENST00000389857.10:c.5217C>A	ENSP00000374507.6:p.Thr1739=
ENST00000556726.5:c.1445C>A
NM_001080414.3:c.5217C>A	NP_001073883.2:p.Thr1739=
XM_011536796.1:c.5109C>A	XP_011535098.1:p.Thr1703=
XR_429316.2:n.5492C>A
XM_011536796.2:c.5109C>A	XP_011535098.1:p.Thr1703=
XM_017021336.1:c.2298C>A	XP_016876825.1:p.Thr766=
XR_429316.4:n.5490C>A
NM_001080414.4:c.5217C>A MANE Select	NP_001073883.2:p.Thr1739=