Canonical Allele Identifier: CA265517472

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1013587895
• gnomAD v2: 14-91804305-T-A
• gnomAD v3: 14-91337961-T-A
• gnomAD v4: 14-91337961-T-A
• MyVariant Identifiers: chr14:g.91804305T>A (hg19) ; chr14:g.91337961T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91337961T>A , CM000676.2:g.91337961T>A	GRCh38
NC_000014.8:g.91804305T>A , CM000676.1:g.91804305T>A	GRCh37
NC_000014.7:g.90874058T>A	NCBI36
NG_033118.1:g.84884A>T
NG_033118.2:g.84884A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.1050+44A>T MANE Select	ENSP00000374507.6:n.1050+44A>T
ENST00000389857.10:c.1050+44A>T	ENSP00000374507.6:n.1050+44A>T
NM_001080414.3:c.1050+44A>T	NP_001073883.2:n.1050+44A>T
XM_005267691.3:c.1050+44A>T	XP_005267748.1:n.1050+44A>T
XM_011536796.1:c.942+44A>T	XP_011535098.1:n.942+44A>T
XR_429316.2:n.1178+44A>T
XR_943459.1:n.1178+44A>T
XM_005267691.5:c.1050+44A>T	XP_005267748.1:n.1050+44A>T
XM_011536796.2:c.942+44A>T	XP_011535098.1:n.942+44A>T
XM_017021335.2:c.1050+44A>T	XP_016876824.1:n.1050+44A>T
XM_017021337.2:c.1050+44A>T	XP_016876826.1:n.1050+44A>T
XR_429316.4:n.1176+44A>T
NM_001080414.4:c.1050+44A>T MANE Select	NP_001073883.2:n.1050+44A>T