Canonical Allele Identifier: CA487541124

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1893128015
• gnomAD v3: 14-91338023-G-A
• gnomAD v4: 14-91338023-G-A
• MyVariant Identifiers: chr14:g.91804367G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91338023G>A , CM000676.2:g.91338023G>A	GRCh38
NC_000014.8:g.91804367G>A , CM000676.1:g.91804367G>A	GRCh37
NC_000014.7:g.90874120G>A	NCBI36
NG_033118.1:g.84822C>T
NG_033118.2:g.84822C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.1032C>T MANE Select	ENSP00000374507.6:p.Phe344=
ENST00000389857.10:c.1032C>T	ENSP00000374507.6:p.Phe344=
NM_001080414.3:c.1032C>T	NP_001073883.2:p.Phe344=
XM_005267691.3:c.1032C>T	XP_005267748.1:p.Phe344=
XM_011536796.1:c.924C>T	XP_011535098.1:p.Phe308=
XR_429316.2:n.1160C>T
XR_943459.1:n.1160C>T
XM_005267691.5:c.1032C>T	XP_005267748.1:p.Phe344=
XM_011536796.2:c.924C>T	XP_011535098.1:p.Phe308=
XM_017021335.2:c.1032C>T	XP_016876824.1:p.Phe344=
XM_017021337.2:c.1032C>T	XP_016876826.1:p.Phe344=
XR_429316.4:n.1158C>T
NM_001080414.4:c.1032C>T MANE Select	NP_001073883.2:p.Phe344=