Canonical Allele Identifier: CA390610858

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273604-G-A
• MyVariant Identifiers: chr14:g.91739948G>A (hg19) ; chr14:g.91273604G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273604G>A , CM000676.2:g.91273604G>A	GRCh38
NC_000014.8:g.91739948G>A , CM000676.1:g.91739948G>A	GRCh37
NC_000014.7:g.90809701G>A	NCBI36
NG_033118.1:g.149241C>T
NG_033118.2:g.149241C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5108C>T MANE Select	ENSP00000374507.6:p.Ala1703Val
ENST00000331194.8:c.680C>T	ENSP00000330332.8:p.Ala227Val
ENST00000334448.5:n.920C>T
ENST00000389857.10:c.5108C>T	ENSP00000374507.6:p.Ala1703Val
ENST00000556726.5:c.1336C>T
NM_001080414.3:c.5108C>T	NP_001073883.2:p.Ala1703Val
XM_011536796.1:c.5000C>T	XP_011535098.1:p.Ala1667Val
XR_429316.2:n.5383C>T
XM_011536796.2:c.5000C>T	XP_011535098.1:p.Ala1667Val
XM_017021336.1:c.2189C>T	XP_016876825.1:p.Ala730Val
XR_429316.4:n.5381C>T
NM_001080414.4:c.5108C>T MANE Select	NP_001073883.2:p.Ala1703Val