Canonical Allele Identifier: CA413430233

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 2294028
• ClinVar RCV Id: RCV002859799 ; RCV004538867
• gnomAD v4: X-68063907-G-T
• MyVariant Identifiers: chrX:g.67283749G>T (hg19) ; chrX:g.68063907G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063907G>T , CM000685.2:g.68063907G>T	GRCh38
NC_000023.10:g.67283749G>T , CM000685.1:g.67283749G>T	GRCh37
NC_000023.9:g.67200474G>T	NCBI36
NG_008960.1:g.374551C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2105C>A MANE Select	ENSP00000347710.5:p.Pro702His
ENST00000679748.1:c.1834+9245C>A	ENSP00000505800.1:n.1834+9245C>A
ENST00000679822.1:c.1834+9245C>A	ENSP00000505810.1:n.1834+9245C>A
ENST00000680592.1:n.1611C>A
ENST00000680612.1:c.1686+32963C>A	ENSP00000505365.1:n.1686+32963C>A
ENST00000681408.1:c.2000C>A	ENSP00000506619.1:p.Pro667His
ENST00000355520.5:c.2105C>A	ENSP00000347710.5:p.Pro702His
ENST00000484842.1:n.721C>A
NM_002547.2:c.2105C>A	NP_002538.1:p.Pro702His
XM_005262270.1:c.1834+9245C>A	XP_005262327.1:n.1834+9245C>A
XM_006724653.1:c.2105C>A	XP_006724716.1:p.Pro702His
XM_011530961.1:c.2105C>A	XP_011529263.1:p.Pro702His
XM_006724653.2:c.2105C>A	XP_006724716.1:p.Pro702His
NM_002547.3:c.2105C>A MANE Select	NP_002538.1:p.Pro702His