Canonical Allele Identifier: CA7308545

Gene: CCDC88C

Linked Data

• dbSNP Id: rs760595045
• ExAC: 14:91739084 T / G
• gnomAD v2: 14-91739084-T-G
• MyVariant Identifiers: chr14:g.91739084T>G (hg19) ; chr14:g.91272740T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272740T>G , CM000676.2:g.91272740T>G	GRCh38
NC_000014.8:g.91739084T>G , CM000676.1:g.91739084T>G	GRCh37
NC_000014.7:g.90808837T>G	NCBI36
NG_033118.1:g.150105A>C
NG_033118.2:g.150105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5972A>C MANE Select	ENSP00000374507.6:p.His1991Pro
ENST00000331194.8:c.1406A>C	ENSP00000330332.8:p.His469Pro
ENST00000389857.10:c.5972A>C	ENSP00000374507.6:p.His1991Pro
ENST00000556726.5:c.2200A>C
NM_001080414.3:c.5972A>C	NP_001073883.2:p.His1991Pro
XM_011536796.1:c.5864A>C	XP_011535098.1:p.His1955Pro
XM_011536796.2:c.5864A>C	XP_011535098.1:p.His1955Pro
XM_017021336.1:c.3053A>C	XP_016876825.1:p.His1018Pro
NM_001080414.4:c.5972A>C MANE Select	NP_001073883.2:p.His1991Pro