Canonical Allele Identifier: CA487828613

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2723302
• ClinVar RCV Id: RCV003559288
• MyVariant Identifiers: chr14:g.91739122C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272778C>G , CM000676.2:g.91272778C>G	GRCh38
NC_000014.8:g.91739122C>G , CM000676.1:g.91739122C>G	GRCh37
NC_000014.7:g.90808875C>G	NCBI36
NG_033118.1:g.150067G>C
NG_033118.2:g.150067G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5934G>C MANE Select	ENSP00000374507.6:p.Pro1978=
ENST00000331194.8:c.1368G>C	ENSP00000330332.8:p.Pro456=
ENST00000389857.10:c.5934G>C	ENSP00000374507.6:p.Pro1978=
ENST00000556726.5:c.2162G>C
NM_001080414.3:c.5934G>C	NP_001073883.2:p.Pro1978=
XM_011536796.1:c.5826G>C	XP_011535098.1:p.Pro1942=
XM_011536796.2:c.5826G>C	XP_011535098.1:p.Pro1942=
XM_017021336.1:c.3015G>C	XP_016876825.1:p.Pro1005=
NM_001080414.4:c.5934G>C MANE Select	NP_001073883.2:p.Pro1978=