Canonical Allele Identifier: CA7308736

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 447023
• ClinVar RCV Id: RCV000517979 ; RCV000916016
• dbSNP Id: rs77154172
• ExAC: 14:91739969 A / G
• gnomAD: 14:91739969 A / G
• MyVariant Identifiers: chr14:g.91739969A>G (hg19) ; chr14:g.91273625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273625A>G , CM000676.2:g.91273625A>G	GRCh38
NC_000014.8:g.91739969A>G , CM000676.1:g.91739969A>G	GRCh37
NC_000014.7:g.90809722A>G	NCBI36
NG_033118.1:g.149220T>C
NG_033118.2:g.149220T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5087T>C MANE Select	ENSP00000374507.6:p.Leu1696Pro
ENST00000331194.8:c.659T>C	ENSP00000330332.8:p.Leu220Pro
ENST00000334448.5:n.899T>C
ENST00000389857.10:c.5087T>C	ENSP00000374507.6:p.Leu1696Pro
ENST00000556726.5:n.1315T>C
NM_001080414.3:c.5087T>C	NP_001073883.2:p.Leu1696Pro
XM_011536796.1:c.4979T>C	XP_011535098.1:p.Leu1660Pro
XR_429316.2:n.5362T>C
XM_011536796.2:c.4979T>C	XP_011535098.1:p.Leu1660Pro
XM_017021336.1:c.2168T>C	XP_016876825.1:p.Leu723Pro
XR_429316.4:n.5360T>C
NM_001080414.4:c.5087T>C MANE Select	NP_001073883.2:p.Leu1696Pro