Canonical Allele Identifier: CA390610254

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1394402199
• gnomAD v2: 14-91739769-G-C
• gnomAD v4: 14-91273425-G-C
• MyVariant Identifiers: chr14:g.91739769G>C (hg19) ; chr14:g.91273425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273425G>C , CM000676.2:g.91273425G>C	GRCh38
NC_000014.8:g.91739769G>C , CM000676.1:g.91739769G>C	GRCh37
NC_000014.7:g.90809522G>C	NCBI36
NG_033118.1:g.149420C>G
NG_033118.2:g.149420C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5287C>G MANE Select	ENSP00000374507.6:p.Pro1763Ala
ENST00000331194.8:c.859C>G	ENSP00000330332.8:p.Pro287Ala
ENST00000389857.10:c.5287C>G	ENSP00000374507.6:p.Pro1763Ala
ENST00000556726.5:c.1515C>G
NM_001080414.3:c.5287C>G	NP_001073883.2:p.Pro1763Ala
XM_011536796.1:c.5179C>G	XP_011535098.1:p.Pro1727Ala
XM_011536796.2:c.5179C>G	XP_011535098.1:p.Pro1727Ala
XM_017021336.1:c.2368C>G	XP_016876825.1:p.Pro790Ala
NM_001080414.4:c.5287C>G MANE Select	NP_001073883.2:p.Pro1763Ala