Canonical Allele Identifier: CA7308725

Gene: CCDC88C

Linked Data

• dbSNP Id: rs370005900
• ExAC: 14:91739928 C / T
• gnomAD v2: 14-91739928-C-T
• gnomAD v3: 14-91273584-C-T
• gnomAD v4: 14-91273584-C-T
• MyVariant Identifiers: chr14:g.91739928C>T (hg19) ; chr14:g.91273584C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273584C>T , CM000676.2:g.91273584C>T	GRCh38
NC_000014.8:g.91739928C>T , CM000676.1:g.91739928C>T	GRCh37
NC_000014.7:g.90809681C>T	NCBI36
NG_033118.1:g.149261G>A
NG_033118.2:g.149261G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5128G>A MANE Select	ENSP00000374507.6:p.Gly1710Arg
ENST00000331194.8:c.700G>A	ENSP00000330332.8:p.Gly234Arg
ENST00000334448.5:n.940G>A
ENST00000389857.10:c.5128G>A	ENSP00000374507.6:p.Gly1710Arg
ENST00000556726.5:c.1356G>A
NM_001080414.3:c.5128G>A	NP_001073883.2:p.Gly1710Arg
XM_011536796.1:c.5020G>A	XP_011535098.1:p.Gly1674Arg
XR_429316.2:n.5403G>A
XM_011536796.2:c.5020G>A	XP_011535098.1:p.Gly1674Arg
XM_017021336.1:c.2209G>A	XP_016876825.1:p.Gly737Arg
XR_429316.4:n.5401G>A
NM_001080414.4:c.5128G>A MANE Select	NP_001073883.2:p.Gly1710Arg