Canonical Allele Identifier: CA265527922

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2906890
• ClinVar RCV Id: RCV003734395
• dbSNP Id: rs948323938
• gnomAD v2: 14-91747835-G-A
• gnomAD v3: 14-91281491-G-A
• gnomAD v4: 14-91281491-G-A
• MyVariant Identifiers: chr14:g.91747835G>A (hg19) ; chr14:g.91281491G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91281491G>A , CM000676.2:g.91281491G>A	GRCh38
NC_000014.8:g.91747835G>A , CM000676.1:g.91747835G>A	GRCh37
NC_000014.7:g.90817588G>A	NCBI36
NG_033118.1:g.141354C>T
NG_033118.2:g.141354C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4665C>T MANE Select	ENSP00000374507.6:p.Ser1555=
ENST00000331194.8:c.237C>T	ENSP00000330332.8:p.Ser79=
ENST00000334448.5:n.330C>T
ENST00000389857.10:c.4665C>T	ENSP00000374507.6:p.Ser1555=
ENST00000556726.5:c.893C>T
NM_001080414.3:c.4665C>T	NP_001073883.2:p.Ser1555=
XM_011536796.1:c.4557C>T	XP_011535098.1:p.Ser1519=
XR_429316.2:n.4793C>T
XR_943459.1:n.4793C>T
XM_011536796.2:c.4557C>T	XP_011535098.1:p.Ser1519=
XM_017021335.2:c.4665C>T	XP_016876824.1:p.Ser1555=
XM_017021336.1:c.1746C>T	XP_016876825.1:p.Ser582=
XR_429316.4:n.4791C>T
NM_001080414.4:c.4665C>T MANE Select	NP_001073883.2:p.Ser1555=