Canonical Allele Identifier: CA7308854

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2877971
• ClinVar RCV Id: RCV003715234
• dbSNP Id: rs752247270
• ExAC: 14:91745604 G / A
• gnomAD v2: 14-91745604-G-A
• gnomAD v4: 14-91279260-G-A
• COSMIC: COSM6457550 ; COSM6457551 ; COSM6457552
• MyVariant Identifiers: chr14:g.91745604G>A (hg19) ; chr14:g.91279260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279260G>A , CM000676.2:g.91279260G>A	GRCh38
NC_000014.8:g.91745604G>A , CM000676.1:g.91745604G>A	GRCh37
NC_000014.7:g.90815357G>A	NCBI36
NG_033118.1:g.143585C>T
NG_033118.2:g.143585C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4746C>T MANE Select	ENSP00000374507.6:p.Asn1582=
ENST00000331194.8:c.318C>T	ENSP00000330332.8:p.Asn106=
ENST00000334448.5:n.558C>T
ENST00000389857.10:c.4746C>T	ENSP00000374507.6:p.Asn1582=
ENST00000556726.5:c.974C>T
ENST00000557455.1:n.718C>T
NM_001080414.3:c.4746C>T	NP_001073883.2:p.Asn1582=
XM_011536796.1:c.4638C>T	XP_011535098.1:p.Asn1546=
XR_429316.2:n.5021C>T
XM_011536796.2:c.4638C>T	XP_011535098.1:p.Asn1546=
XM_017021336.1:c.1827C>T	XP_016876825.1:p.Asn609=
XR_429316.4:n.5019C>T
NM_001080414.4:c.4746C>T MANE Select	NP_001073883.2:p.Asn1582=