Canonical Allele Identifier: CA390610766

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273557-T-G
• MyVariant Identifiers: chr14:g.91739901T>G (hg19) ; chr14:g.91273557T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273557T>G , CM000676.2:g.91273557T>G	GRCh38
NC_000014.8:g.91739901T>G , CM000676.1:g.91739901T>G	GRCh37
NC_000014.7:g.90809654T>G	NCBI36
NG_033118.1:g.149288A>C
NG_033118.2:g.149288A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5155A>C MANE Select	ENSP00000374507.6:p.Lys1719Gln
ENST00000331194.8:c.727A>C	ENSP00000330332.8:p.Lys243Gln
ENST00000334448.5:n.967A>C
ENST00000389857.10:c.5155A>C	ENSP00000374507.6:p.Lys1719Gln
ENST00000556726.5:c.1383A>C
NM_001080414.3:c.5155A>C	NP_001073883.2:p.Lys1719Gln
XM_011536796.1:c.5047A>C	XP_011535098.1:p.Lys1683Gln
XR_429316.2:n.5430A>C
XM_011536796.2:c.5047A>C	XP_011535098.1:p.Lys1683Gln
XM_017021336.1:c.2236A>C	XP_016876825.1:p.Lys746Gln
XR_429316.4:n.5428A>C
NM_001080414.4:c.5155A>C MANE Select	NP_001073883.2:p.Lys1719Gln