Canonical Allele Identifier: CA390610028

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1889826102
• gnomAD v3: 14-91273386-T-A
• gnomAD v4: 14-91273386-T-A
• MyVariant Identifiers: chr14:g.91739730T>A (hg19) ; chr14:g.91273386T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273386T>A , CM000676.2:g.91273386T>A	GRCh38
NC_000014.8:g.91739730T>A , CM000676.1:g.91739730T>A	GRCh37
NC_000014.7:g.90809483T>A	NCBI36
NG_033118.1:g.149459A>T
NG_033118.2:g.149459A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5326A>T MANE Select	ENSP00000374507.6:p.Ser1776Cys
ENST00000331194.8:c.898A>T	ENSP00000330332.8:p.Ser300Cys
ENST00000389857.10:c.5326A>T	ENSP00000374507.6:p.Ser1776Cys
ENST00000556726.5:c.1554A>T
NM_001080414.3:c.5326A>T	NP_001073883.2:p.Ser1776Cys
XM_011536796.1:c.5218A>T	XP_011535098.1:p.Ser1740Cys
XM_011536796.2:c.5218A>T	XP_011535098.1:p.Ser1740Cys
XM_017021336.1:c.2407A>T	XP_016876825.1:p.Ser803Cys
NM_001080414.4:c.5326A>T MANE Select	NP_001073883.2:p.Ser1776Cys