Canonical Allele Identifier: CA390612871

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91279236-A-G
• MyVariant Identifiers: chr14:g.91745580A>G (hg19) ; chr14:g.91279236A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279236A>G , CM000676.2:g.91279236A>G	GRCh38
NC_000014.8:g.91745580A>G , CM000676.1:g.91745580A>G	GRCh37
NC_000014.7:g.90815333A>G	NCBI36
NG_033118.1:g.143609T>C
NG_033118.2:g.143609T>C

Transcript Alleles

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