Canonical Allele Identifier: CA390610311

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1296031734
• gnomAD v2: 14-91739778-C-T
• gnomAD v4: 14-91273434-C-T
• MyVariant Identifiers: chr14:g.91739778C>T (hg19) ; chr14:g.91273434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273434C>T , CM000676.2:g.91273434C>T	GRCh38
NC_000014.8:g.91739778C>T , CM000676.1:g.91739778C>T	GRCh37
NC_000014.7:g.90809531C>T	NCBI36
NG_033118.1:g.149411G>A
NG_033118.2:g.149411G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5278G>A MANE Select	ENSP00000374507.6:p.Ala1760Thr
ENST00000331194.8:c.850G>A	ENSP00000330332.8:p.Ala284Thr
ENST00000389857.10:c.5278G>A	ENSP00000374507.6:p.Ala1760Thr
ENST00000556726.5:c.1506G>A
NM_001080414.3:c.5278G>A	NP_001073883.2:p.Ala1760Thr
XM_011536796.1:c.5170G>A	XP_011535098.1:p.Ala1724Thr
XM_011536796.2:c.5170G>A	XP_011535098.1:p.Ala1724Thr
XM_017021336.1:c.2359G>A	XP_016876825.1:p.Ala787Thr
NM_001080414.4:c.5278G>A MANE Select	NP_001073883.2:p.Ala1760Thr