Canonical Allele Identifier: CA171546

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 158119
• ClinVar RCV Id: RCV000145448 ; RCV000957235
• dbSNP Id: rs45560241
• ExAC: 14:91739076 G / C
• gnomAD v2: 14-91739076-G-C
• gnomAD v3: 14-91272732-G-C
• gnomAD v4: 14-91272732-G-C
• MyVariant Identifiers: chr14:g.91739076G>C (hg19) ; chr14:g.91272732G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272732G>C , CM000676.2:g.91272732G>C	GRCh38
NC_000014.8:g.91739076G>C , CM000676.1:g.91739076G>C	GRCh37
NC_000014.7:g.90808829G>C	NCBI36
NG_033118.1:g.150113C>G
NG_033118.2:g.150113C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5980C>G MANE Select	ENSP00000374507.6:p.Arg1994Gly
ENST00000331194.8:c.1414C>G	ENSP00000330332.8:p.Arg472Gly
ENST00000389857.10:c.5980C>G	ENSP00000374507.6:p.Arg1994Gly
ENST00000556726.5:c.2208C>G
NM_001080414.3:c.5980C>G	NP_001073883.2:p.Arg1994Gly
XM_011536796.1:c.5872C>G	XP_011535098.1:p.Arg1958Gly
XM_011536796.2:c.5872C>G	XP_011535098.1:p.Arg1958Gly
XM_017021336.1:c.3061C>G	XP_016876825.1:p.Arg1021Gly
NM_001080414.4:c.5980C>G MANE Select	NP_001073883.2:p.Arg1994Gly