Canonical Allele Identifier: CA7308526

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 444336
• ClinVar RCV Id: RCV000513515 ; RCV000765186 ; RCV001849184 ; RCV002524960
• dbSNP Id: rs201940261
• ExAC: 14:91739030 G / A
• gnomAD v2: 14-91739030-G-A
• gnomAD v3: 14-91272686-G-A
• gnomAD v4: 14-91272686-G-A
• COSMIC: COSM1200095 ; COSM1200096 ; COSM1200097
• MyVariant Identifiers: chr14:g.91739030G>A (hg19) ; chr14:g.91272686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272686G>A , CM000676.2:g.91272686G>A	GRCh38
NC_000014.8:g.91739030G>A , CM000676.1:g.91739030G>A	GRCh37
NC_000014.7:g.90808783G>A	NCBI36
NG_033118.1:g.150159C>T
NG_033118.2:g.150159C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6026C>T MANE Select	ENSP00000374507.6:p.Pro2009Leu
ENST00000331194.8:c.1460C>T	ENSP00000330332.8:p.Pro487Leu
ENST00000389857.10:c.6026C>T	ENSP00000374507.6:p.Pro2009Leu
ENST00000556726.5:c.2254C>T
NM_001080414.3:c.6026C>T	NP_001073883.2:p.Pro2009Leu
XM_011536796.1:c.5918C>T	XP_011535098.1:p.Pro1973Leu
XM_011536796.2:c.5918C>T	XP_011535098.1:p.Pro1973Leu
XM_017021336.1:c.3107C>T	XP_016876825.1:p.Pro1036Leu
NM_001080414.4:c.6026C>T MANE Select	NP_001073883.2:p.Pro2009Leu