Canonical Allele Identifier: CA709867382

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1236371389
• gnomAD v4: 14-91279154-C-A
• MyVariant Identifiers: chr14:g.91745498C>A (hg19) ; chr14:g.91279154C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279154C>A , CM000676.2:g.91279154C>A	GRCh38
NC_000014.8:g.91745498C>A , CM000676.1:g.91745498C>A	GRCh37
NC_000014.7:g.90815251C>A	NCBI36
NG_033118.1:g.143691G>T
NG_033118.2:g.143691G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+84G>T MANE Select	ENSP00000374507.6:n.4768+84G>T
ENST00000331194.8:c.340+84G>T	ENSP00000330332.8:n.340+84G>T
ENST00000334448.5:n.580+84G>T
ENST00000389857.10:c.4768+84G>T	ENSP00000374507.6:n.4768+84G>T
ENST00000556726.5:c.996+84G>T
ENST00000557455.1:n.740+84G>T
NM_001080414.3:c.4768+84G>T	NP_001073883.2:n.4768+84G>T
XM_011536796.1:c.4660+84G>T	XP_011535098.1:n.4660+84G>T
XR_429316.2:n.5043+84G>T
XM_011536796.2:c.4660+84G>T	XP_011535098.1:n.4660+84G>T
XM_017021336.1:c.1849+84G>T	XP_016876825.1:n.1849+84G>T
XR_429316.4:n.5041+84G>T
NM_001080414.4:c.4768+84G>T MANE Select	NP_001073883.2:n.4768+84G>T