Canonical Allele Identifier: CA7308742

Gene: CCDC88C

Linked Data

• dbSNP Id: rs764772042
• ExAC: 14:91739982 G / A
• gnomAD v2: 14-91739982-G-A
• gnomAD v3: 14-91273638-G-A
• gnomAD v4: 14-91273638-G-A
• COSMIC: COSM5822887 ; COSM5822888 ; COSM5822889
• MyVariant Identifiers: chr14:g.91739982G>A (hg19) ; chr14:g.91273638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273638G>A , CM000676.2:g.91273638G>A	GRCh38
NC_000014.8:g.91739982G>A , CM000676.1:g.91739982G>A	GRCh37
NC_000014.7:g.90809735G>A	NCBI36
NG_033118.1:g.149207C>T
NG_033118.2:g.149207C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5074C>T MANE Select	ENSP00000374507.6:p.Arg1692Trp
ENST00000331194.8:c.646C>T	ENSP00000330332.8:p.Arg216Trp
ENST00000334448.5:n.886C>T
ENST00000389857.10:c.5074C>T	ENSP00000374507.6:p.Arg1692Trp
ENST00000556726.5:c.1302C>T
NM_001080414.3:c.5074C>T	NP_001073883.2:p.Arg1692Trp
XM_011536796.1:c.4966C>T	XP_011535098.1:p.Arg1656Trp
XR_429316.2:n.5349C>T
XM_011536796.2:c.4966C>T	XP_011535098.1:p.Arg1656Trp
XM_017021336.1:c.2155C>T	XP_016876825.1:p.Arg719Trp
XR_429316.4:n.5347C>T
NM_001080414.4:c.5074C>T MANE Select	NP_001073883.2:p.Arg1692Trp