Canonical Allele Identifier: CA390607965

Gene: CCDC88C

Linked Data

• gnomAD v4: 14-91272653-G-T
• MyVariant Identifiers: chr14:g.91738997G>T (hg19) ; chr14:g.91272653G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272653G>T , CM000676.2:g.91272653G>T	GRCh38
NC_000014.8:g.91738997G>T , CM000676.1:g.91738997G>T	GRCh37
NC_000014.7:g.90808750G>T	NCBI36
NG_033118.1:g.150192C>A
NG_033118.2:g.150192C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6059C>A MANE Select	ENSP00000374507.6:p.Thr2020Asn
ENST00000331194.8:c.1493C>A	ENSP00000330332.8:p.Thr498Asn
ENST00000389857.10:c.6059C>A	ENSP00000374507.6:p.Thr2020Asn
ENST00000556726.5:c.2287C>A
NM_001080414.3:c.6059C>A	NP_001073883.2:p.Thr2020Asn
XM_011536796.1:c.5951C>A	XP_011535098.1:p.Thr1984Asn
XM_011536796.2:c.5951C>A	XP_011535098.1:p.Thr1984Asn
XM_017021336.1:c.3140C>A	XP_016876825.1:p.Thr1047Asn
NM_001080414.4:c.6059C>A MANE Select	NP_001073883.2:p.Thr2020Asn