Canonical Allele Identifier: CA487829266

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91273441-C-A
• MyVariant Identifiers: chr14:g.91739785C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273441C>A , CM000676.2:g.91273441C>A	GRCh38
NC_000014.8:g.91739785C>A , CM000676.1:g.91739785C>A	GRCh37
NC_000014.7:g.90809538C>A	NCBI36
NG_033118.1:g.149404G>T
NG_033118.2:g.149404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5271G>T MANE Select	ENSP00000374507.6:p.Leu1757=
ENST00000331194.8:c.843G>T	ENSP00000330332.8:p.Leu281=
ENST00000389857.10:c.5271G>T	ENSP00000374507.6:p.Leu1757=
ENST00000556726.5:c.1499G>T
NM_001080414.3:c.5271G>T	NP_001073883.2:p.Leu1757=
XM_011536796.1:c.5163G>T	XP_011535098.1:p.Leu1721=
XM_011536796.2:c.5163G>T	XP_011535098.1:p.Leu1721=
XM_017021336.1:c.2352G>T	XP_016876825.1:p.Leu784=
NM_001080414.4:c.5271G>T MANE Select	NP_001073883.2:p.Leu1757=