Canonical Allele Identifier: CA487828452

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272649-C-T
• MyVariant Identifiers: chr14:g.91738993C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272649C>T , CM000676.2:g.91272649C>T	GRCh38
NC_000014.8:g.91738993C>T , CM000676.1:g.91738993C>T	GRCh37
NC_000014.7:g.90808746C>T	NCBI36
NG_033118.1:g.150196G>A
NG_033118.2:g.150196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6063G>A MANE Select	ENSP00000374507.6:p.Val2021=
ENST00000331194.8:c.1497G>A	ENSP00000330332.8:p.Val499=
ENST00000389857.10:c.6063G>A	ENSP00000374507.6:p.Val2021=
ENST00000556726.5:c.2291G>A
NM_001080414.3:c.6063G>A	NP_001073883.2:p.Val2021=
XM_011536796.1:c.5955G>A	XP_011535098.1:p.Val1985=
XM_011536796.2:c.5955G>A	XP_011535098.1:p.Val1985=
XM_017021336.1:c.3144G>A	XP_016876825.1:p.Val1048=
NM_001080414.4:c.6063G>A MANE Select	NP_001073883.2:p.Val2021=