Canonical Allele Identifier: CA709867350

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1255424499
• gnomAD v4: 14-91279100-A-G
• MyVariant Identifiers: chr14:g.91745444A>G (hg19) ; chr14:g.91279100A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279100A>G , CM000676.2:g.91279100A>G	GRCh38
NC_000014.8:g.91745444A>G , CM000676.1:g.91745444A>G	GRCh37
NC_000014.7:g.90815197A>G	NCBI36
NG_033118.1:g.143745T>C
NG_033118.2:g.143745T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+138T>C MANE Select	ENSP00000374507.6:n.4768+138T>C
ENST00000331194.8:c.340+138T>C	ENSP00000330332.8:n.340+138T>C
ENST00000334448.5:n.580+138T>C
ENST00000389857.10:c.4768+138T>C	ENSP00000374507.6:n.4768+138T>C
ENST00000556726.5:c.996+138T>C
ENST00000557455.1:n.740+138T>C
NM_001080414.3:c.4768+138T>C	NP_001073883.2:n.4768+138T>C
XM_011536796.1:c.4660+138T>C	XP_011535098.1:n.4660+138T>C
XR_429316.2:n.5043+138T>C
XM_011536796.2:c.4660+138T>C	XP_011535098.1:n.4660+138T>C
XM_017021336.1:c.1849+138T>C	XP_016876825.1:n.1849+138T>C
XR_429316.4:n.5041+138T>C
NM_001080414.4:c.4768+138T>C MANE Select	NP_001073883.2:n.4768+138T>C