Canonical Allele Identifier: CA487828549

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2713973
• ClinVar RCV Id: RCV003550672
• gnomAD v4: 14-91272732-G-T
• MyVariant Identifiers: chr14:g.91739076G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272732G>T , CM000676.2:g.91272732G>T	GRCh38
NC_000014.8:g.91739076G>T , CM000676.1:g.91739076G>T	GRCh37
NC_000014.7:g.90808829G>T	NCBI36
NG_033118.1:g.150113C>A
NG_033118.2:g.150113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5980C>A MANE Select	ENSP00000374507.6:p.Arg1994=
ENST00000331194.8:c.1414C>A	ENSP00000330332.8:p.Arg472=
ENST00000389857.10:c.5980C>A	ENSP00000374507.6:p.Arg1994=
ENST00000556726.5:c.2208C>A
NM_001080414.3:c.5980C>A	NP_001073883.2:p.Arg1994=
XM_011536796.1:c.5872C>A	XP_011535098.1:p.Arg1958=
XM_011536796.2:c.5872C>A	XP_011535098.1:p.Arg1958=
XM_017021336.1:c.3061C>A	XP_016876825.1:p.Arg1021=
NM_001080414.4:c.5980C>A MANE Select	NP_001073883.2:p.Arg1994=