Canonical Allele Identifier: CA390610274

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273429-C-A
• MyVariant Identifiers: chr14:g.91739773C>A (hg19) ; chr14:g.91273429C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273429C>A , CM000676.2:g.91273429C>A	GRCh38
NC_000014.8:g.91739773C>A , CM000676.1:g.91739773C>A	GRCh37
NC_000014.7:g.90809526C>A	NCBI36
NG_033118.1:g.149416G>T
NG_033118.2:g.149416G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5283G>T MANE Select	ENSP00000374507.6:p.Glu1761Asp
ENST00000331194.8:c.855G>T	ENSP00000330332.8:p.Glu285Asp
ENST00000389857.10:c.5283G>T	ENSP00000374507.6:p.Glu1761Asp
ENST00000556726.5:c.1511G>T
NM_001080414.3:c.5283G>T	NP_001073883.2:p.Glu1761Asp
XM_011536796.1:c.5175G>T	XP_011535098.1:p.Glu1725Asp
XM_011536796.2:c.5175G>T	XP_011535098.1:p.Glu1725Asp
XM_017021336.1:c.2364G>T	XP_016876825.1:p.Glu788Asp
NM_001080414.4:c.5283G>T MANE Select	NP_001073883.2:p.Glu1761Asp