Canonical Allele Identifier: CA390610259

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1432836421
• gnomAD v2: 14-91739771-G-A
• gnomAD v3: 14-91273427-G-A
• gnomAD v4: 14-91273427-G-A
• MyVariant Identifiers: chr14:g.91739771G>A (hg19) ; chr14:g.91273427G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273427G>A , CM000676.2:g.91273427G>A	GRCh38
NC_000014.8:g.91739771G>A , CM000676.1:g.91739771G>A	GRCh37
NC_000014.7:g.90809524G>A	NCBI36
NG_033118.1:g.149418C>T
NG_033118.2:g.149418C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5285C>T MANE Select	ENSP00000374507.6:p.Ala1762Val
ENST00000331194.8:c.857C>T	ENSP00000330332.8:p.Ala286Val
ENST00000389857.10:c.5285C>T	ENSP00000374507.6:p.Ala1762Val
ENST00000556726.5:c.1513C>T
NM_001080414.3:c.5285C>T	NP_001073883.2:p.Ala1762Val
XM_011536796.1:c.5177C>T	XP_011535098.1:p.Ala1726Val
XM_011536796.2:c.5177C>T	XP_011535098.1:p.Ala1726Val
XM_017021336.1:c.2366C>T	XP_016876825.1:p.Ala789Val
NM_001080414.4:c.5285C>T MANE Select	NP_001073883.2:p.Ala1762Val