Canonical Allele Identifier: CA390623100

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2620120
• ClinVar RCV Id: RCV003379368
• MyVariant Identifiers: chr14:g.91772122G>T (hg19) ; chr14:g.91305778G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305778G>T , CM000676.2:g.91305778G>T	GRCh38
NC_000014.8:g.91772122G>T , CM000676.1:g.91772122G>T	GRCh37
NC_000014.7:g.90841875G>T	NCBI36
NG_033118.1:g.117067C>A
NG_033118.2:g.117067C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3344C>A MANE Select	ENSP00000374507.6:p.Thr1115Asn
ENST00000389857.10:c.3344C>A	ENSP00000374507.6:p.Thr1115Asn
NM_001080414.3:c.3344C>A	NP_001073883.2:p.Thr1115Asn
XM_005267691.3:c.3344C>A	XP_005267748.1:p.Thr1115Asn
XM_011536796.1:c.3236C>A	XP_011535098.1:p.Thr1079Asn
XR_429316.2:n.3472C>A
XR_943459.1:n.3472C>A
XM_005267691.5:c.3344C>A	XP_005267748.1:p.Thr1115Asn
XM_011536796.2:c.3236C>A	XP_011535098.1:p.Thr1079Asn
XM_017021335.2:c.3344C>A	XP_016876824.1:p.Thr1115Asn
XM_017021336.1:c.425C>A	XP_016876825.1:p.Thr142Asn
XR_429316.4:n.3470C>A
NM_001080414.4:c.3344C>A MANE Select	NP_001073883.2:p.Thr1115Asn