Canonical Allele Identifier: CA390610830

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1292828916
• gnomAD v2: 14-91739933-G-T
• gnomAD v4: 14-91273589-G-T
• MyVariant Identifiers: chr14:g.91739933G>T (hg19) ; chr14:g.91273589G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273589G>T , CM000676.2:g.91273589G>T	GRCh38
NC_000014.8:g.91739933G>T , CM000676.1:g.91739933G>T	GRCh37
NC_000014.7:g.90809686G>T	NCBI36
NG_033118.1:g.149256C>A
NG_033118.2:g.149256C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5123C>A MANE Select	ENSP00000374507.6:p.Ala1708Asp
ENST00000331194.8:c.695C>A	ENSP00000330332.8:p.Ala232Asp
ENST00000334448.5:n.935C>A
ENST00000389857.10:c.5123C>A	ENSP00000374507.6:p.Ala1708Asp
ENST00000556726.5:c.1351C>A
NM_001080414.3:c.5123C>A	NP_001073883.2:p.Ala1708Asp
XM_011536796.1:c.5015C>A	XP_011535098.1:p.Ala1672Asp
XR_429316.2:n.5398C>A
XM_011536796.2:c.5015C>A	XP_011535098.1:p.Ala1672Asp
XM_017021336.1:c.2204C>A	XP_016876825.1:p.Ala735Asp
XR_429316.4:n.5396C>A
NM_001080414.4:c.5123C>A MANE Select	NP_001073883.2:p.Ala1708Asp