Canonical Allele Identifier: CA487830015

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2878992
• ClinVar RCV Id: RCV003707998
• dbSNP Id: rs1423162104
• gnomAD v2: 14-91780035-G-A
• gnomAD v3: 14-91313691-G-A
• gnomAD v4: 14-91313691-G-A
• MyVariant Identifiers: chr14:g.91780035G>A (hg19) ; chr14:g.91313691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313691G>A , CM000676.2:g.91313691G>A	GRCh38
NC_000014.8:g.91780035G>A , CM000676.1:g.91780035G>A	GRCh37
NC_000014.7:g.90849788G>A	NCBI36
NG_033118.1:g.109154C>T
NG_033118.2:g.109154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2125C>T MANE Select	ENSP00000374507.6:p.Leu709=
ENST00000389857.10:c.2125C>T	ENSP00000374507.6:p.Leu709=
NM_001080414.3:c.2125C>T	NP_001073883.2:p.Leu709=
XM_005267691.3:c.2125C>T	XP_005267748.1:p.Leu709=
XM_011536796.1:c.2017C>T	XP_011535098.1:p.Leu673=
XR_429316.2:n.2253C>T
XR_943459.1:n.2253C>T
XM_005267691.5:c.2125C>T	XP_005267748.1:p.Leu709=
XM_011536796.2:c.2017C>T	XP_011535098.1:p.Leu673=
XM_017021335.2:c.2125C>T	XP_016876824.1:p.Leu709=
XM_017021337.2:c.2125C>T	XP_016876826.1:p.Leu709=
XR_429316.4:n.2251C>T
NM_001080414.4:c.2125C>T MANE Select	NP_001073883.2:p.Leu709=