Canonical Allele Identifier: CA7308714

Gene: CCDC88C

Linked Data

• dbSNP Id: rs768378092
• ExAC: 14:91739867 G / T
• gnomAD v2: 14-91739867-G-T
• gnomAD v4: 14-91273523-G-T
• MyVariant Identifiers: chr14:g.91739867G>T (hg19) ; chr14:g.91273523G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273523G>T , CM000676.2:g.91273523G>T	GRCh38
NC_000014.8:g.91739867G>T , CM000676.1:g.91739867G>T	GRCh37
NC_000014.7:g.90809620G>T	NCBI36
NG_033118.1:g.149322C>A
NG_033118.2:g.149322C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5189C>A MANE Select	ENSP00000374507.6:p.Ala1730Asp
ENST00000331194.8:c.761C>A	ENSP00000330332.8:p.Ala254Asp
ENST00000334448.5:n.1001C>A
ENST00000389857.10:c.5189C>A	ENSP00000374507.6:p.Ala1730Asp
ENST00000556726.5:c.1417C>A
NM_001080414.3:c.5189C>A	NP_001073883.2:p.Ala1730Asp
XM_011536796.1:c.5081C>A	XP_011535098.1:p.Ala1694Asp
XR_429316.2:n.5464C>A
XM_011536796.2:c.5081C>A	XP_011535098.1:p.Ala1694Asp
XM_017021336.1:c.2270C>A	XP_016876825.1:p.Ala757Asp
XR_429316.4:n.5462C>A
NM_001080414.4:c.5189C>A MANE Select	NP_001073883.2:p.Ala1730Asp