Canonical Allele Identifier: CA487540271

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91278003-C-A
• MyVariant Identifiers: chr14:g.91744347C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91278003C>A , CM000676.2:g.91278003C>A	GRCh38
NC_000014.8:g.91744347C>A , CM000676.1:g.91744347C>A	GRCh37
NC_000014.7:g.90814100C>A	NCBI36
NG_033118.1:g.144842G>T
NG_033118.2:g.144842G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.4977G>T MANE Select	ENSP00000374507.6:p.Arg1659=
ENST00000331194.8:c.549G>T	ENSP00000330332.8:p.Arg183=
ENST00000334448.5:n.789G>T
ENST00000389857.10:c.4977G>T	ENSP00000374507.6:p.Arg1659=
ENST00000556726.5:c.1205G>T
NM_001080414.3:c.4977G>T	NP_001073883.2:p.Arg1659=
XM_011536796.1:c.4869G>T	XP_011535098.1:p.Arg1623=
XR_429316.2:n.5252G>T
XM_011536796.2:c.4869G>T	XP_011535098.1:p.Arg1623=
XM_017021336.1:c.2058G>T	XP_016876825.1:p.Arg686=
XR_429316.4:n.5250G>T
NM_001080414.4:c.4977G>T MANE Select	NP_001073883.2:p.Arg1659=