Canonical Allele Identifier: CA265518508

Gene: CCDC88C

Linked Data

• dbSNP Id: rs201467365
• gnomAD v4: 14-91273535-G-T
• MyVariant Identifiers: chr14:g.91739879G>T (hg19) ; chr14:g.91273535G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273535G>T , CM000676.2:g.91273535G>T	GRCh38
NC_000014.8:g.91739879G>T , CM000676.1:g.91739879G>T	GRCh37
NC_000014.7:g.90809632G>T	NCBI36
NG_033118.1:g.149310C>A
NG_033118.2:g.149310C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000389857.11:c.5177C>A MANE Select	ENSP00000374507.6:p.Thr1726Asn
ENST00000331194.8:c.749C>A	ENSP00000330332.8:p.Thr250Asn
ENST00000334448.5:n.989C>A
ENST00000389857.10:c.5177C>A	ENSP00000374507.6:p.Thr1726Asn
ENST00000556726.5:c.1405C>A
NM_001080414.3:c.5177C>A	NP_001073883.2:p.Thr1726Asn
XM_011536796.1:c.5069C>A	XP_011535098.1:p.Thr1690Asn
XR_429316.2:n.5452C>A
XM_011536796.2:c.5069C>A	XP_011535098.1:p.Thr1690Asn
XM_017021336.1:c.2258C>A	XP_016876825.1:p.Thr753Asn
XR_429316.4:n.5450C>A
NM_001080414.4:c.5177C>A MANE Select	NP_001073883.2:p.Thr1726Asn