Canonical Allele Identifier: CA487829326

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273525-C-T
• MyVariant Identifiers: chr14:g.91739869C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273525C>T , CM000676.2:g.91273525C>T	GRCh38
NC_000014.8:g.91739869C>T , CM000676.1:g.91739869C>T	GRCh37
NC_000014.7:g.90809622C>T	NCBI36
NG_033118.1:g.149320G>A
NG_033118.2:g.149320G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5187G>A MANE Select	ENSP00000374507.6:p.Val1729=
ENST00000331194.8:c.759G>A	ENSP00000330332.8:p.Val253=
ENST00000334448.5:n.999G>A
ENST00000389857.10:c.5187G>A	ENSP00000374507.6:p.Val1729=
ENST00000556726.5:c.1415G>A
NM_001080414.3:c.5187G>A	NP_001073883.2:p.Val1729=
XM_011536796.1:c.5079G>A	XP_011535098.1:p.Val1693=
XR_429316.2:n.5462G>A
XM_011536796.2:c.5079G>A	XP_011535098.1:p.Val1693=
XM_017021336.1:c.2268G>A	XP_016876825.1:p.Val756=
XR_429316.4:n.5460G>A
NM_001080414.4:c.5187G>A MANE Select	NP_001073883.2:p.Val1729=