Canonical Allele Identifier: CA615723906
Gene: CCDC88C HGNC NCBI

Linked Data

dbSNP Id: rs1218111188

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.91279212A>G , CM000676.2:g.91279212A>G GRCh38
NC_000014.8:g.91745556A>G , CM000676.1:g.91745556A>G GRCh37
NC_000014.7:g.90815309A>G NCBI36
NG_033118.1:g.143633T>C
NG_033118.2:g.143633T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389857.11:c.4768+26T>C MANE Select ENSP00000374507.6:n.4768+26T>C
ENST00000331194.8:c.340+26T>C ENSP00000330332.8:n.340+26T>C
ENST00000334448.5:n.580+26T>C
ENST00000389857.10:c.4768+26T>C ENSP00000374507.6:n.4768+26T>C
ENST00000556726.5:c.996+26T>C
ENST00000557455.1:n.740+26T>C
NM_001080414.3:c.4768+26T>C NP_001073883.2:n.4768+26T>C
XM_011536796.1:c.4660+26T>C XP_011535098.1:n.4660+26T>C
XR_429316.2:n.5043+26T>C
XM_011536796.2:c.4660+26T>C XP_011535098.1:n.4660+26T>C
XM_017021336.1:c.1849+26T>C XP_016876825.1:n.1849+26T>C
XR_429316.4:n.5041+26T>C
NM_001080414.4:c.4768+26T>C MANE Select NP_001073883.2:n.4768+26T>C