Canonical Allele Identifier: CA390610930

Gene: CCDC88C

Linked Data

• dbSNP Id: rs759225705
• gnomAD v2: 14-91739981-C-A
• gnomAD v4: 14-91273637-C-A
• MyVariant Identifiers: chr14:g.91739981C>A (hg19) ; chr14:g.91273637C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273637C>A , CM000676.2:g.91273637C>A	GRCh38
NC_000014.8:g.91739981C>A , CM000676.1:g.91739981C>A	GRCh37
NC_000014.7:g.90809734C>A	NCBI36
NG_033118.1:g.149208G>T
NG_033118.2:g.149208G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5075G>T MANE Select	ENSP00000374507.6:p.Arg1692Leu
ENST00000331194.8:c.647G>T	ENSP00000330332.8:p.Arg216Leu
ENST00000334448.5:n.887G>T
ENST00000389857.10:c.5075G>T	ENSP00000374507.6:p.Arg1692Leu
ENST00000556726.5:c.1303G>T
NM_001080414.3:c.5075G>T	NP_001073883.2:p.Arg1692Leu
XM_011536796.1:c.4967G>T	XP_011535098.1:p.Arg1656Leu
XR_429316.2:n.5350G>T
XM_011536796.2:c.4967G>T	XP_011535098.1:p.Arg1656Leu
XM_017021336.1:c.2156G>T	XP_016876825.1:p.Arg719Leu
XR_429316.4:n.5348G>T
NM_001080414.4:c.5075G>T MANE Select	NP_001073883.2:p.Arg1692Leu