Canonical Allele Identifier: CA390610742

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1175498323
• gnomAD v2: 14-91739891-G-T
• gnomAD v3: 14-91273547-G-T
• gnomAD v4: 14-91273547-G-T
• MyVariant Identifiers: chr14:g.91739891G>T (hg19) ; chr14:g.91273547G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273547G>T , CM000676.2:g.91273547G>T	GRCh38
NC_000014.8:g.91739891G>T , CM000676.1:g.91739891G>T	GRCh37
NC_000014.7:g.90809644G>T	NCBI36
NG_033118.1:g.149298C>A
NG_033118.2:g.149298C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5165C>A MANE Select	ENSP00000374507.6:p.Ala1722Asp
ENST00000331194.8:c.737C>A	ENSP00000330332.8:p.Ala246Asp
ENST00000334448.5:n.977C>A
ENST00000389857.10:c.5165C>A	ENSP00000374507.6:p.Ala1722Asp
ENST00000556726.5:c.1393C>A
NM_001080414.3:c.5165C>A	NP_001073883.2:p.Ala1722Asp
XM_011536796.1:c.5057C>A	XP_011535098.1:p.Ala1686Asp
XR_429316.2:n.5440C>A
XM_011536796.2:c.5057C>A	XP_011535098.1:p.Ala1686Asp
XM_017021336.1:c.2246C>A	XP_016876825.1:p.Ala749Asp
XR_429316.4:n.5438C>A
NM_001080414.4:c.5165C>A MANE Select	NP_001073883.2:p.Ala1722Asp