Canonical Allele Identifier: CA390610729

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1477879949
• gnomAD v2: 14-91739886-T-C
• gnomAD v4: 14-91273542-T-C
• MyVariant Identifiers: chr14:g.91739886T>C (hg19) ; chr14:g.91273542T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273542T>C , CM000676.2:g.91273542T>C	GRCh38
NC_000014.8:g.91739886T>C , CM000676.1:g.91739886T>C	GRCh37
NC_000014.7:g.90809639T>C	NCBI36
NG_033118.1:g.149303A>G
NG_033118.2:g.149303A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5170A>G MANE Select	ENSP00000374507.6:p.Met1724Val
ENST00000331194.8:c.742A>G	ENSP00000330332.8:p.Met248Val
ENST00000334448.5:n.982A>G
ENST00000389857.10:c.5170A>G	ENSP00000374507.6:p.Met1724Val
ENST00000556726.5:c.1398A>G
NM_001080414.3:c.5170A>G	NP_001073883.2:p.Met1724Val
XM_011536796.1:c.5062A>G	XP_011535098.1:p.Met1688Val
XR_429316.2:n.5445A>G
XM_011536796.2:c.5062A>G	XP_011535098.1:p.Met1688Val
XM_017021336.1:c.2251A>G	XP_016876825.1:p.Met751Val
XR_429316.4:n.5443A>G
NM_001080414.4:c.5170A>G MANE Select	NP_001073883.2:p.Met1724Val