Canonical Allele Identifier: CA487541265

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2824255
• ClinVar RCV Id: RCV003678177
• MyVariant Identifiers: chr14:g.91804463T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338119T>C , CM000676.2:g.91338119T>C	GRCh38
NC_000014.8:g.91804463T>C , CM000676.1:g.91804463T>C	GRCh37
NC_000014.7:g.90874216T>C	NCBI36
NG_033118.1:g.84726A>G
NG_033118.2:g.84726A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.936A>G MANE Select	ENSP00000374507.6:p.Arg312=
ENST00000389857.10:c.936A>G	ENSP00000374507.6:p.Arg312=
ENST00000554051.1:n.413A>G
NM_001080414.3:c.936A>G	NP_001073883.2:p.Arg312=
XM_005267691.3:c.936A>G	XP_005267748.1:p.Arg312=
XM_011536796.1:c.828A>G	XP_011535098.1:p.Arg276=
XR_429316.2:n.1064A>G
XR_943459.1:n.1064A>G
XM_005267691.5:c.936A>G	XP_005267748.1:p.Arg312=
XM_011536796.2:c.828A>G	XP_011535098.1:p.Arg276=
XM_017021335.2:c.936A>G	XP_016876824.1:p.Arg312=
XM_017021337.2:c.936A>G	XP_016876826.1:p.Arg312=
XR_429316.4:n.1062A>G
NM_001080414.4:c.936A>G MANE Select	NP_001073883.2:p.Arg312=