Canonical Allele Identifier: CA7308716

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 1924403
• ClinVar RCV Id: RCV002634806
• dbSNP Id: rs761768016
• ExAC: 14:91739875 G / A
• gnomAD v4: 14-91273531-G-A
• MyVariant Identifiers: chr14:g.91739875G>A (hg19) ; chr14:g.91273531G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273531G>A , CM000676.2:g.91273531G>A	GRCh38
NC_000014.8:g.91739875G>A , CM000676.1:g.91739875G>A	GRCh37
NC_000014.7:g.90809628G>A	NCBI36
NG_033118.1:g.149314C>T
NG_033118.2:g.149314C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5181C>T MANE Select	ENSP00000374507.6:p.Asn1727=
ENST00000331194.8:c.753C>T	ENSP00000330332.8:p.Asn251=
ENST00000334448.5:n.993C>T
ENST00000389857.10:c.5181C>T	ENSP00000374507.6:p.Asn1727=
ENST00000556726.5:c.1409C>T
NM_001080414.3:c.5181C>T	NP_001073883.2:p.Asn1727=
XM_011536796.1:c.5073C>T	XP_011535098.1:p.Asn1691=
XR_429316.2:n.5456C>T
XM_011536796.2:c.5073C>T	XP_011535098.1:p.Asn1691=
XM_017021336.1:c.2262C>T	XP_016876825.1:p.Asn754=
XR_429316.4:n.5454C>T
NM_001080414.4:c.5181C>T MANE Select	NP_001073883.2:p.Asn1727=