Canonical Allele Identifier: CA7308722

Gene: CCDC88C

Linked Data

• dbSNP Id: rs753528597
• ExAC: 14:91739909 G / A
• gnomAD v2: 14-91739909-G-A
• gnomAD v4: 14-91273565-G-A
• MyVariant Identifiers: chr14:g.91739909G>A (hg19) ; chr14:g.91273565G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273565G>A , CM000676.2:g.91273565G>A	GRCh38
NC_000014.8:g.91739909G>A , CM000676.1:g.91739909G>A	GRCh37
NC_000014.7:g.90809662G>A	NCBI36
NG_033118.1:g.149280C>T
NG_033118.2:g.149280C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5147C>T MANE Select	ENSP00000374507.6:p.Pro1716Leu
ENST00000331194.8:c.719C>T	ENSP00000330332.8:p.Pro240Leu
ENST00000334448.5:n.959C>T
ENST00000389857.10:c.5147C>T	ENSP00000374507.6:p.Pro1716Leu
ENST00000556726.5:c.1375C>T
NM_001080414.3:c.5147C>T	NP_001073883.2:p.Pro1716Leu
XM_011536796.1:c.5039C>T	XP_011535098.1:p.Pro1680Leu
XR_429316.2:n.5422C>T
XM_011536796.2:c.5039C>T	XP_011535098.1:p.Pro1680Leu
XM_017021336.1:c.2228C>T	XP_016876825.1:p.Pro743Leu
XR_429316.4:n.5420C>T
NM_001080414.4:c.5147C>T MANE Select	NP_001073883.2:p.Pro1716Leu