Canonical Allele Identifier: CA615723897

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1448647688
• gnomAD v2: 14-91745471-T-G
• gnomAD v3: 14-91279127-T-G
• gnomAD v4: 14-91279127-T-G
• MyVariant Identifiers: chr14:g.91745471T>G (hg19) ; chr14:g.91279127T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279127T>G , CM000676.2:g.91279127T>G	GRCh38
NC_000014.8:g.91745471T>G , CM000676.1:g.91745471T>G	GRCh37
NC_000014.7:g.90815224T>G	NCBI36
NG_033118.1:g.143718A>C
NG_033118.2:g.143718A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+111A>C MANE Select	ENSP00000374507.6:n.4768+111A>C
ENST00000331194.8:c.340+111A>C	ENSP00000330332.8:n.340+111A>C
ENST00000334448.5:n.580+111A>C
ENST00000389857.10:c.4768+111A>C	ENSP00000374507.6:n.4768+111A>C
ENST00000556726.5:c.996+111A>C
ENST00000557455.1:n.740+111A>C
NM_001080414.3:c.4768+111A>C	NP_001073883.2:n.4768+111A>C
XM_011536796.1:c.4660+111A>C	XP_011535098.1:n.4660+111A>C
XR_429316.2:n.5043+111A>C
XM_011536796.2:c.4660+111A>C	XP_011535098.1:n.4660+111A>C
XM_017021336.1:c.1849+111A>C	XP_016876825.1:n.1849+111A>C
XR_429316.4:n.5041+111A>C
NM_001080414.4:c.4768+111A>C MANE Select	NP_001073883.2:n.4768+111A>C