Canonical Allele Identifier: CA487828684

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1420178725
• gnomAD v2: 14-91739170-G-C
• gnomAD v4: 14-91272826-G-C
• COSMIC: COSM339001 ; COSM339002 ; COSM339003
• MyVariant Identifiers: chr14:g.91739170G>C (hg19) ; chr14:g.91272826G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272826G>C , CM000676.2:g.91272826G>C	GRCh38
NC_000014.8:g.91739170G>C , CM000676.1:g.91739170G>C	GRCh37
NC_000014.7:g.90808923G>C	NCBI36
NG_033118.1:g.150019C>G
NG_033118.2:g.150019C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5886C>G MANE Select	ENSP00000374507.6:p.Leu1962=
ENST00000331194.8:c.1320C>G	ENSP00000330332.8:p.Leu440=
ENST00000389857.10:c.5886C>G	ENSP00000374507.6:p.Leu1962=
ENST00000556726.5:c.2114C>G
NM_001080414.3:c.5886C>G	NP_001073883.2:p.Leu1962=
XM_011536796.1:c.5778C>G	XP_011535098.1:p.Leu1926=
XM_011536796.2:c.5778C>G	XP_011535098.1:p.Leu1926=
XM_017021336.1:c.2967C>G	XP_016876825.1:p.Leu989=
NM_001080414.4:c.5886C>G MANE Select	NP_001073883.2:p.Leu1962=