Canonical Allele Identifier: CA487549070

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1343741950
• gnomAD v2: 14-91772157-G-A
• gnomAD v4: 14-91305813-G-A
• MyVariant Identifiers: chr14:g.91772157G>A (hg19) ; chr14:g.91305813G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91305813G>A , CM000676.2:g.91305813G>A	GRCh38
NC_000014.8:g.91772157G>A , CM000676.1:g.91772157G>A	GRCh37
NC_000014.7:g.90841910G>A	NCBI36
NG_033118.1:g.117032C>T
NG_033118.2:g.117032C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.3309C>T MANE Select	ENSP00000374507.6:p.Phe1103=
ENST00000389857.10:c.3309C>T	ENSP00000374507.6:p.Phe1103=
NM_001080414.3:c.3309C>T	NP_001073883.2:p.Phe1103=
XM_005267691.3:c.3309C>T	XP_005267748.1:p.Phe1103=
XM_011536796.1:c.3201C>T	XP_011535098.1:p.Phe1067=
XR_429316.2:n.3437C>T
XR_943459.1:n.3437C>T
XM_005267691.5:c.3309C>T	XP_005267748.1:p.Phe1103=
XM_011536796.2:c.3201C>T	XP_011535098.1:p.Phe1067=
XM_017021335.2:c.3309C>T	XP_016876824.1:p.Phe1103=
XM_017021336.1:c.390C>T	XP_016876825.1:p.Phe130=
XR_429316.4:n.3435C>T
NM_001080414.4:c.3309C>T MANE Select	NP_001073883.2:p.Phe1103=