Canonical Allele Identifier: CA615723896

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1376191128
• gnomAD v2: 14-91745465-A-C
• gnomAD v3: 14-91279121-A-C
• gnomAD v4: 14-91279121-A-C
• MyVariant Identifiers: chr14:g.91745465A>C (hg19) ; chr14:g.91279121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279121A>C , CM000676.2:g.91279121A>C	GRCh38
NC_000014.8:g.91745465A>C , CM000676.1:g.91745465A>C	GRCh37
NC_000014.7:g.90815218A>C	NCBI36
NG_033118.1:g.143724T>G
NG_033118.2:g.143724T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4768+117T>G MANE Select	ENSP00000374507.6:n.4768+117T>G
ENST00000331194.8:c.340+117T>G	ENSP00000330332.8:n.340+117T>G
ENST00000334448.5:n.580+117T>G
ENST00000389857.10:c.4768+117T>G	ENSP00000374507.6:n.4768+117T>G
ENST00000556726.5:c.996+117T>G
ENST00000557455.1:n.740+117T>G
NM_001080414.3:c.4768+117T>G	NP_001073883.2:n.4768+117T>G
XM_011536796.1:c.4660+117T>G	XP_011535098.1:n.4660+117T>G
XR_429316.2:n.5043+117T>G
XM_011536796.2:c.4660+117T>G	XP_011535098.1:n.4660+117T>G
XM_017021336.1:c.1849+117T>G	XP_016876825.1:n.1849+117T>G
XR_429316.4:n.5041+117T>G
NM_001080414.4:c.4768+117T>G MANE Select	NP_001073883.2:n.4768+117T>G