Canonical Allele Identifier: CA390608142

Gene: CCDC88C

Linked Data

• dbSNP Id: rs1370936161
• gnomAD v4: 14-91272741-G-A
• MyVariant Identifiers: chr14:g.91739085G>A (hg19) ; chr14:g.91272741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.91272741G>A , CM000676.2:g.91272741G>A	GRCh38
NC_000014.8:g.91739085G>A , CM000676.1:g.91739085G>A	GRCh37
NC_000014.7:g.90808838G>A	NCBI36
NG_033118.1:g.150104C>T
NG_033118.2:g.150104C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000389857.11:c.5971C>T MANE Select	ENSP00000374507.6:p.His1991Tyr
ENST00000331194.8:c.1405C>T	ENSP00000330332.8:p.His469Tyr
ENST00000389857.10:c.5971C>T	ENSP00000374507.6:p.His1991Tyr
ENST00000556726.5:c.2199C>T
NM_001080414.3:c.5971C>T	NP_001073883.2:p.His1991Tyr
XM_011536796.1:c.5863C>T	XP_011535098.1:p.His1955Tyr
XM_011536796.2:c.5863C>T	XP_011535098.1:p.His1955Tyr
XM_017021336.1:c.3052C>T	XP_016876825.1:p.His1018Tyr
NM_001080414.4:c.5971C>T MANE Select	NP_001073883.2:p.His1991Tyr