Canonical Allele Identifier: CA487829296

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273480-C-A
• MyVariant Identifiers: chr14:g.91739824C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273480C>A , CM000676.2:g.91273480C>A	GRCh38
NC_000014.8:g.91739824C>A , CM000676.1:g.91739824C>A	GRCh37
NC_000014.7:g.90809577C>A	NCBI36
NG_033118.1:g.149365G>T
NG_033118.2:g.149365G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5232G>T MANE Select	ENSP00000374507.6:p.Pro1744=
ENST00000331194.8:c.804G>T	ENSP00000330332.8:p.Pro268=
ENST00000334448.5:n.1044G>T
ENST00000389857.10:c.5232G>T	ENSP00000374507.6:p.Pro1744=
ENST00000556726.5:c.1460G>T
NM_001080414.3:c.5232G>T	NP_001073883.2:p.Pro1744=
XM_011536796.1:c.5124G>T	XP_011535098.1:p.Pro1708=
XR_429316.2:n.5507G>T
XM_011536796.2:c.5124G>T	XP_011535098.1:p.Pro1708=
XM_017021336.1:c.2313G>T	XP_016876825.1:p.Pro771=
XR_429316.4:n.5505G>T
NM_001080414.4:c.5232G>T MANE Select	NP_001073883.2:p.Pro1744=