Canonical Allele Identifier: CA615723902

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1349788947
• gnomAD v2: 14-91745540-C-A
• gnomAD v4: 14-91279196-C-A
• MyVariant Identifiers: chr14:g.91745540C>A (hg19) ; chr14:g.91279196C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91279196C>A , CM000676.2:g.91279196C>A	GRCh38
NC_000014.8:g.91745540C>A , CM000676.1:g.91745540C>A	GRCh37
NC_000014.7:g.90815293C>A	NCBI36
NG_033118.1:g.143649G>T
NG_033118.2:g.143649G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.4768+42G>T MANE Select	ENSP00000374507.6:n.4768+42G>T
ENST00000331194.8:c.340+42G>T	ENSP00000330332.8:n.340+42G>T
ENST00000334448.5:n.580+42G>T
ENST00000389857.10:c.4768+42G>T	ENSP00000374507.6:n.4768+42G>T
ENST00000556726.5:c.996+42G>T
ENST00000557455.1:n.740+42G>T
NM_001080414.3:c.4768+42G>T	NP_001073883.2:n.4768+42G>T
XM_011536796.1:c.4660+42G>T	XP_011535098.1:n.4660+42G>T
XR_429316.2:n.5043+42G>T
XM_011536796.2:c.4660+42G>T	XP_011535098.1:n.4660+42G>T
XM_017021336.1:c.1849+42G>T	XP_016876825.1:n.1849+42G>T
XR_429316.4:n.5041+42G>T
NM_001080414.4:c.4768+42G>T MANE Select	NP_001073883.2:n.4768+42G>T