Canonical Allele Identifier: CA7308804

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 447022
• ClinVar RCV Id: RCV000517066 ; RCV000897482
• dbSNP Id: rs115510695
• ExAC: 14:91744435 C / T
• gnomAD v2: 14-91744435-C-T
• gnomAD v3: 14-91278091-C-T
• gnomAD v4: 14-91278091-C-T
• MyVariant Identifiers: chr14:g.91744435C>T (hg19) ; chr14:g.91278091C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278091C>T , CM000676.2:g.91278091C>T	GRCh38
NC_000014.8:g.91744435C>T , CM000676.1:g.91744435C>T	GRCh37
NC_000014.7:g.90814188C>T	NCBI36
NG_033118.1:g.144754G>A
NG_033118.2:g.144754G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4889G>A MANE Select	ENSP00000374507.6:p.Arg1630His
ENST00000331194.8:c.461G>A	ENSP00000330332.8:p.Arg154His
ENST00000334448.5:n.701G>A
ENST00000389857.10:c.4889G>A	ENSP00000374507.6:p.Arg1630His
ENST00000556726.5:c.1117G>A
NM_001080414.3:c.4889G>A	NP_001073883.2:p.Arg1630His
XM_011536796.1:c.4781G>A	XP_011535098.1:p.Arg1594His
XR_429316.2:n.5164G>A
XM_011536796.2:c.4781G>A	XP_011535098.1:p.Arg1594His
XM_017021336.1:c.1970G>A	XP_016876825.1:p.Arg657His
XR_429316.4:n.5162G>A
NM_001080414.4:c.4889G>A MANE Select	NP_001073883.2:p.Arg1630His