Canonical Allele Identifier: CA10436802

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 2898747
• ClinVar RCV Id: RCV003728616
• dbSNP Id: rs754104441
• ExAC: X:67283851 A / G
• gnomAD v2: X-67283851-A-G
• gnomAD v4: X-68064009-A-G
• MyVariant Identifiers: chrX:g.67283851A>G (hg19) ; chrX:g.68064009A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68064009A>G , CM000685.2:g.68064009A>G	GRCh38
NC_000023.10:g.67283851A>G , CM000685.1:g.67283851A>G	GRCh37
NC_000023.9:g.67200576A>G	NCBI36
NG_008960.1:g.374449T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2003T>C MANE Select	ENSP00000347710.5:p.Val668Ala
ENST00000679748.1:c.1834+9143T>C	ENSP00000505800.1:n.1834+9143T>C
ENST00000679822.1:c.1834+9143T>C	ENSP00000505810.1:n.1834+9143T>C
ENST00000680592.1:n.1509T>C
ENST00000680612.1:c.1686+32861T>C	ENSP00000505365.1:n.1686+32861T>C
ENST00000681408.1:c.1898T>C	ENSP00000506619.1:p.Val633Ala
ENST00000355520.5:c.2003T>C	ENSP00000347710.5:p.Val668Ala
ENST00000484842.1:n.619T>C
NM_002547.2:c.2003T>C	NP_002538.1:p.Val668Ala
XM_005262270.1:c.1834+9143T>C	XP_005262327.1:n.1834+9143T>C
XM_006724653.1:c.2003T>C	XP_006724716.1:p.Val668Ala
XM_011530961.1:c.2003T>C	XP_011529263.1:p.Val668Ala
XM_006724653.2:c.2003T>C	XP_006724716.1:p.Val668Ala
NM_002547.3:c.2003T>C MANE Select	NP_002538.1:p.Val668Ala