Canonical Allele Identifier: CA7308806

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2998045
• ClinVar RCV Id: RCV003856708
• dbSNP Id: rs759681446
• ExAC: 14:91744440 G / A
• gnomAD v2: 14-91744440-G-A
• gnomAD v3: 14-91278096-G-A
• gnomAD v4: 14-91278096-G-A
• COSMIC: COSM5162310
• MyVariant Identifiers: chr14:g.91744440G>A (hg19) ; chr14:g.91278096G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278096G>A , CM000676.2:g.91278096G>A	GRCh38
NC_000014.8:g.91744440G>A , CM000676.1:g.91744440G>A	GRCh37
NC_000014.7:g.90814193G>A	NCBI36
NG_033118.1:g.144749C>T
NG_033118.2:g.144749C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4884C>T MANE Select	ENSP00000374507.6:p.Leu1628=
ENST00000331194.8:c.456C>T	ENSP00000330332.8:p.Leu152=
ENST00000334448.5:n.696C>T
ENST00000389857.10:c.4884C>T	ENSP00000374507.6:p.Leu1628=
ENST00000556726.5:c.1112C>T
NM_001080414.3:c.4884C>T	NP_001073883.2:p.Leu1628=
XM_011536796.1:c.4776C>T	XP_011535098.1:p.Leu1592=
XR_429316.2:n.5159C>T
XM_011536796.2:c.4776C>T	XP_011535098.1:p.Leu1592=
XM_017021336.1:c.1965C>T	XP_016876825.1:p.Leu655=
XR_429316.4:n.5157C>T
NM_001080414.4:c.4884C>T MANE Select	NP_001073883.2:p.Leu1628=