Canonical Allele Identifier: CA7308568

Gene: CCDC88C

Linked Data

• dbSNP Id: rs751999876
• ExAC: 14:91739172 G / T
• gnomAD v2: 14-91739172-G-T
• gnomAD v4: 14-91272828-G-T
• MyVariant Identifiers: chr14:g.91739172G>T (hg19) ; chr14:g.91272828G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272828G>T , CM000676.2:g.91272828G>T	GRCh38
NC_000014.8:g.91739172G>T , CM000676.1:g.91739172G>T	GRCh37
NC_000014.7:g.90808925G>T	NCBI36
NG_033118.1:g.150017C>A
NG_033118.2:g.150017C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5884C>A MANE Select	ENSP00000374507.6:p.Leu1962Ile
ENST00000331194.8:c.1318C>A	ENSP00000330332.8:p.Leu440Ile
ENST00000389857.10:c.5884C>A	ENSP00000374507.6:p.Leu1962Ile
ENST00000556726.5:c.2112C>A
NM_001080414.3:c.5884C>A	NP_001073883.2:p.Leu1962Ile
XM_011536796.1:c.5776C>A	XP_011535098.1:p.Leu1926Ile
XM_011536796.2:c.5776C>A	XP_011535098.1:p.Leu1926Ile
XM_017021336.1:c.2965C>A	XP_016876825.1:p.Leu989Ile
NM_001080414.4:c.5884C>A MANE Select	NP_001073883.2:p.Leu1962Ile