Canonical Allele Identifier: CA390607922

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1334866416
• gnomAD v4: 14-91272635-C-A
• MyVariant Identifiers: chr14:g.91738979C>A (hg19) ; chr14:g.91272635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272635C>A , CM000676.2:g.91272635C>A	GRCh38
NC_000014.8:g.91738979C>A , CM000676.1:g.91738979C>A	GRCh37
NC_000014.7:g.90808732C>A	NCBI36
NG_033118.1:g.150210G>T
NG_033118.2:g.150210G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.6077G>T MANE Select	ENSP00000374507.6:p.Gly2026Val
ENST00000331194.8:c.1511G>T	ENSP00000330332.8:p.Gly504Val
ENST00000389857.10:c.6077G>T	ENSP00000374507.6:p.Gly2026Val
ENST00000556726.5:c.2305G>T
NM_001080414.3:c.6077G>T	NP_001073883.2:p.Gly2026Val
XM_011536796.1:c.5969G>T	XP_011535098.1:p.Gly1990Val
XM_011536796.2:c.5969G>T	XP_011535098.1:p.Gly1990Val
XM_017021336.1:c.3158G>T	XP_016876825.1:p.Gly1053Val
NM_001080414.4:c.6077G>T MANE Select	NP_001073883.2:p.Gly2026Val