Canonical Allele Identifier: CA7308734

Gene: CCDC88C

Linked Data

• dbSNP Id: rs778723151
• ExAC: 14:91739963 T / A
• gnomAD v2: 14-91739963-T-A
• gnomAD v4: 14-91273619-T-A
• MyVariant Identifiers: chr14:g.91739963T>A (hg19) ; chr14:g.91273619T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273619T>A , CM000676.2:g.91273619T>A	GRCh38
NC_000014.8:g.91739963T>A , CM000676.1:g.91739963T>A	GRCh37
NC_000014.7:g.90809716T>A	NCBI36
NG_033118.1:g.149226A>T
NG_033118.2:g.149226A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5093A>T MANE Select	ENSP00000374507.6:p.Asp1698Val
ENST00000331194.8:c.665A>T	ENSP00000330332.8:p.Asp222Val
ENST00000334448.5:n.905A>T
ENST00000389857.10:c.5093A>T	ENSP00000374507.6:p.Asp1698Val
ENST00000556726.5:c.1321A>T
NM_001080414.3:c.5093A>T	NP_001073883.2:p.Asp1698Val
XM_011536796.1:c.4985A>T	XP_011535098.1:p.Asp1662Val
XR_429316.2:n.5368A>T
XM_011536796.2:c.4985A>T	XP_011535098.1:p.Asp1662Val
XM_017021336.1:c.2174A>T	XP_016876825.1:p.Asp725Val
XR_429316.4:n.5366A>T
NM_001080414.4:c.5093A>T MANE Select	NP_001073883.2:p.Asp1698Val