Canonical Allele Identifier: CA265525064

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1001481604
• gnomAD v3: 14-91279159-C-T
• gnomAD v4: 14-91279159-C-T
• MyVariant Identifiers: chr14:g.91745503C>T (hg19) ; chr14:g.91279159C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279159C>T , CM000676.2:g.91279159C>T	GRCh38
NC_000014.8:g.91745503C>T , CM000676.1:g.91745503C>T	GRCh37
NC_000014.7:g.90815256C>T	NCBI36
NG_033118.1:g.143686G>A
NG_033118.2:g.143686G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+79G>A MANE Select	ENSP00000374507.6:n.4768+79G>A
ENST00000331194.8:c.340+79G>A	ENSP00000330332.8:n.340+79G>A
ENST00000334448.5:n.580+79G>A
ENST00000389857.10:c.4768+79G>A	ENSP00000374507.6:n.4768+79G>A
ENST00000556726.5:c.996+79G>A
ENST00000557455.1:n.740+79G>A
NM_001080414.3:c.4768+79G>A	NP_001073883.2:n.4768+79G>A
XM_011536796.1:c.4660+79G>A	XP_011535098.1:n.4660+79G>A
XR_429316.2:n.5043+79G>A
XM_011536796.2:c.4660+79G>A	XP_011535098.1:n.4660+79G>A
XM_017021336.1:c.1849+79G>A	XP_016876825.1:n.1849+79G>A
XR_429316.4:n.5041+79G>A
NM_001080414.4:c.4768+79G>A MANE Select	NP_001073883.2:n.4768+79G>A