Canonical Allele Identifier: CA487829164

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1889838144
• gnomAD v3: 14-91273630-G-A
• gnomAD v4: 14-91273630-G-A
• MyVariant Identifiers: chr14:g.91739974G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273630G>A , CM000676.2:g.91273630G>A	GRCh38
NC_000014.8:g.91739974G>A , CM000676.1:g.91739974G>A	GRCh37
NC_000014.7:g.90809727G>A	NCBI36
NG_033118.1:g.149215C>T
NG_033118.2:g.149215C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5082C>T MANE Select	ENSP00000374507.6:p.Asp1694=
ENST00000331194.8:c.654C>T	ENSP00000330332.8:p.Asp218=
ENST00000334448.5:n.894C>T
ENST00000389857.10:c.5082C>T	ENSP00000374507.6:p.Asp1694=
ENST00000556726.5:c.1310C>T
NM_001080414.3:c.5082C>T	NP_001073883.2:p.Asp1694=
XM_011536796.1:c.4974C>T	XP_011535098.1:p.Asp1658=
XR_429316.2:n.5357C>T
XM_011536796.2:c.4974C>T	XP_011535098.1:p.Asp1658=
XM_017021336.1:c.2163C>T	XP_016876825.1:p.Asp721=
XR_429316.4:n.5355C>T
NM_001080414.4:c.5082C>T MANE Select	NP_001073883.2:p.Asp1694=