Canonical Allele Identifier: CA7309719

Gene: CCDC88C

Linked Data

• dbSNP Id: rs114142372
• ExAC: 14:91779956 C / A
• gnomAD v2: 14-91779956-C-A
• MyVariant Identifiers: chr14:g.91779956C>A (hg19) ; chr14:g.91313612C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313612C>A , CM000676.2:g.91313612C>A	GRCh38
NC_000014.8:g.91779956C>A , CM000676.1:g.91779956C>A	GRCh37
NC_000014.7:g.90849709C>A	NCBI36
NG_033118.1:g.109233G>T
NG_033118.2:g.109233G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2204G>T MANE Select	ENSP00000374507.6:p.Arg735Leu
ENST00000389857.10:c.2204G>T	ENSP00000374507.6:p.Arg735Leu
NM_001080414.3:c.2204G>T	NP_001073883.2:p.Arg735Leu
XM_005267691.3:c.2204G>T	XP_005267748.1:p.Arg735Leu
XM_011536796.1:c.2096G>T	XP_011535098.1:p.Arg699Leu
XR_429316.2:n.2332G>T
XR_943459.1:n.2332G>T
XM_005267691.5:c.2204G>T	XP_005267748.1:p.Arg735Leu
XM_011536796.2:c.2096G>T	XP_011535098.1:p.Arg699Leu
XM_017021335.2:c.2204G>T	XP_016876824.1:p.Arg735Leu
XM_017021337.2:c.2204G>T	XP_016876826.1:p.Arg735Leu
XR_429316.4:n.2330G>T
NM_001080414.4:c.2204G>T MANE Select	NP_001073883.2:p.Arg735Leu