Canonical Allele Identifier: CA390631672

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2577673
• ClinVar RCV Id: RCV003325010
• dbSNP Id: rs774964242
• gnomAD v2: 14-91780063-G-C
• gnomAD v3: 14-91313719-G-C
• gnomAD v4: 14-91313719-G-C
• MyVariant Identifiers: chr14:g.91780063G>C (hg19) ; chr14:g.91313719G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313719G>C , CM000676.2:g.91313719G>C	GRCh38
NC_000014.8:g.91780063G>C , CM000676.1:g.91780063G>C	GRCh37
NC_000014.7:g.90849816G>C	NCBI36
NG_033118.1:g.109126C>G
NG_033118.2:g.109126C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2097C>G MANE Select	ENSP00000374507.6:p.Asn699Lys
ENST00000389857.10:c.2097C>G	ENSP00000374507.6:p.Asn699Lys
NM_001080414.3:c.2097C>G	NP_001073883.2:p.Asn699Lys
XM_005267691.3:c.2097C>G	XP_005267748.1:p.Asn699Lys
XM_011536796.1:c.1989C>G	XP_011535098.1:p.Asn663Lys
XR_429316.2:n.2225C>G
XR_943459.1:n.2225C>G
XM_005267691.5:c.2097C>G	XP_005267748.1:p.Asn699Lys
XM_011536796.2:c.1989C>G	XP_011535098.1:p.Asn663Lys
XM_017021335.2:c.2097C>G	XP_016876824.1:p.Asn699Lys
XM_017021337.2:c.2097C>G	XP_016876826.1:p.Asn699Lys
XR_429316.4:n.2223C>G
NM_001080414.4:c.2097C>G MANE Select	NP_001073883.2:p.Asn699Lys