Canonical Allele Identifier: CA390610874

Gene: CCDC88C

Linked Data

• ClinVar Variation Id: 2957330
• ClinVar RCV Id: RCV003819017
• dbSNP Id: rs1475150514
• gnomAD v3: 14-91273611-G-A
• gnomAD v4: 14-91273611-G-A
• MyVariant Identifiers: chr14:g.91739955G>A (hg19) ; chr14:g.91273611G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273611G>A , CM000676.2:g.91273611G>A	GRCh38
NC_000014.8:g.91739955G>A , CM000676.1:g.91739955G>A	GRCh37
NC_000014.7:g.90809708G>A	NCBI36
NG_033118.1:g.149234C>T
NG_033118.2:g.149234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5101C>T MANE Select	ENSP00000374507.6:p.Arg1701Ter
ENST00000331194.8:c.673C>T	ENSP00000330332.8:p.Arg225Ter
ENST00000334448.5:n.913C>T
ENST00000389857.10:c.5101C>T	ENSP00000374507.6:p.Arg1701Ter
ENST00000556726.5:c.1329C>T
NM_001080414.3:c.5101C>T	NP_001073883.2:p.Arg1701Ter
XM_011536796.1:c.4993C>T	XP_011535098.1:p.Arg1665Ter
XR_429316.2:n.5376C>T
XM_011536796.2:c.4993C>T	XP_011535098.1:p.Arg1665Ter
XM_017021336.1:c.2182C>T	XP_016876825.1:p.Arg728Ter
XR_429316.4:n.5374C>T
NM_001080414.4:c.5101C>T MANE Select	NP_001073883.2:p.Arg1701Ter