Canonical Allele Identifier: CA390629923

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1567069152
• gnomAD v2: 14-91779663-C-G
• gnomAD v4: 14-91313319-C-G
• MyVariant Identifiers: chr14:g.91779663C>G (hg19) ; chr14:g.91779663_91779666delinsGCTT (hg19) ; chr14:g.91313319C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91313319C>G , CM000676.2:g.91313319C>G	GRCh38
NC_000014.8:g.91779663C>G , CM000676.1:g.91779663C>G	GRCh37
NC_000014.7:g.90849416C>G	NCBI36
NG_033118.1:g.109526G>C
NG_033118.2:g.109526G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.2497G>C MANE Select	ENSP00000374507.6:p.Asp833His
ENST00000389857.10:c.2497G>C	ENSP00000374507.6:p.Asp833His
NM_001080414.3:c.2497G>C	NP_001073883.2:p.Asp833His
XM_005267691.3:c.2497G>C	XP_005267748.1:p.Asp833His
XM_011536796.1:c.2389G>C	XP_011535098.1:p.Asp797His
XR_429316.2:n.2625G>C
XR_943459.1:n.2625G>C
XM_005267691.5:c.2497G>C	XP_005267748.1:p.Asp833His
XM_011536796.2:c.2389G>C	XP_011535098.1:p.Asp797His
XM_017021335.2:c.2497G>C	XP_016876824.1:p.Asp833His
XM_017021337.2:c.2497G>C	XP_016876826.1:p.Asp833His
XR_429316.4:n.2623G>C
NM_001080414.4:c.2497G>C MANE Select	NP_001073883.2:p.Asp833His