Canonical Allele Identifier: CA7308738

Gene: CCDC88C

Linked Data

• dbSNP Id: rs193276761
• ExAC: 14:91739976 C / T
• gnomAD v2: 14-91739976-C-T
• gnomAD v3: 14-91273632-C-T
• gnomAD v4: 14-91273632-C-T
• MyVariant Identifiers: chr14:g.91739976C>T (hg19) ; chr14:g.91273632C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273632C>T , CM000676.2:g.91273632C>T	GRCh38
NC_000014.8:g.91739976C>T , CM000676.1:g.91739976C>T	GRCh37
NC_000014.7:g.90809729C>T	NCBI36
NG_033118.1:g.149213G>A
NG_033118.2:g.149213G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5080G>A MANE Select	ENSP00000374507.6:p.Asp1694Asn
ENST00000331194.8:c.652G>A	ENSP00000330332.8:p.Asp218Asn
ENST00000334448.5:n.892G>A
ENST00000389857.10:c.5080G>A	ENSP00000374507.6:p.Asp1694Asn
ENST00000556726.5:c.1308G>A
NM_001080414.3:c.5080G>A	NP_001073883.2:p.Asp1694Asn
XM_011536796.1:c.4972G>A	XP_011535098.1:p.Asp1658Asn
XR_429316.2:n.5355G>A
XM_011536796.2:c.4972G>A	XP_011535098.1:p.Asp1658Asn
XM_017021336.1:c.2161G>A	XP_016876825.1:p.Asp721Asn
XR_429316.4:n.5353G>A
NM_001080414.4:c.5080G>A MANE Select	NP_001073883.2:p.Asp1694Asn