Canonical Allele Identifier: CA7308543

Gene: CCDC88C

Linked Data

• dbSNP Id: rs201422981
• ExAC: 14:91739079 C / T
• gnomAD v2: 14-91739079-C-T
• gnomAD v3: 14-91272735-C-T
• gnomAD v4: 14-91272735-C-T
• MyVariant Identifiers: chr14:g.91739079C>T (hg19) ; chr14:g.91272735C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272735C>T , CM000676.2:g.91272735C>T	GRCh38
NC_000014.8:g.91739079C>T , CM000676.1:g.91739079C>T	GRCh37
NC_000014.7:g.90808832C>T	NCBI36
NG_033118.1:g.150110G>A
NG_033118.2:g.150110G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5977G>A MANE Select	ENSP00000374507.6:p.Gly1993Ser
ENST00000331194.8:c.1411G>A	ENSP00000330332.8:p.Gly471Ser
ENST00000389857.10:c.5977G>A	ENSP00000374507.6:p.Gly1993Ser
ENST00000556726.5:c.2205G>A
NM_001080414.3:c.5977G>A	NP_001073883.2:p.Gly1993Ser
XM_011536796.1:c.5869G>A	XP_011535098.1:p.Gly1957Ser
XM_011536796.2:c.5869G>A	XP_011535098.1:p.Gly1957Ser
XM_017021336.1:c.3058G>A	XP_016876825.1:p.Gly1020Ser
NM_001080414.4:c.5977G>A MANE Select	NP_001073883.2:p.Gly1993Ser