Canonical Allele Identifier: CA265518515

Gene: CCDC88C

Linked Data

• dbSNP Id: rs369927918
• gnomAD v2: 14-91739884-C-A
• gnomAD v4: 14-91273540-C-A
• MyVariant Identifiers: chr14:g.91739884C>A (hg19) ; chr14:g.91273540C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91273540C>A , CM000676.2:g.91273540C>A	GRCh38
NC_000014.8:g.91739884C>A , CM000676.1:g.91739884C>A	GRCh37
NC_000014.7:g.90809637C>A	NCBI36
NG_033118.1:g.149305G>T
NG_033118.2:g.149305G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5172G>T MANE Select	ENSP00000374507.6:p.Met1724Ile
ENST00000331194.8:c.744G>T	ENSP00000330332.8:p.Met248Ile
ENST00000334448.5:n.984G>T
ENST00000389857.10:c.5172G>T	ENSP00000374507.6:p.Met1724Ile
ENST00000556726.5:c.1400G>T
NM_001080414.3:c.5172G>T	NP_001073883.2:p.Met1724Ile
XM_011536796.1:c.5064G>T	XP_011535098.1:p.Met1688Ile
XR_429316.2:n.5447G>T
XM_011536796.2:c.5064G>T	XP_011535098.1:p.Met1688Ile
XM_017021336.1:c.2253G>T	XP_016876825.1:p.Met751Ile
XR_429316.4:n.5445G>T
NM_001080414.4:c.5172G>T MANE Select	NP_001073883.2:p.Met1724Ile