Canonical Allele Identifier: CA330807965

Gene: OPHN1

Linked Data

• ClinVar Variation Id: 2540650
• ClinVar RCV Id: RCV003271918 ; RCV003575064
• dbSNP Id: rs139638690
• gnomAD v2: X-67283835-C-G
• gnomAD v3: X-68063993-C-G
• gnomAD v4: X-68063993-C-G
• MyVariant Identifiers: chrX:g.67283835C>G (hg19) ; chrX:g.68063993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.68063993C>G , CM000685.2:g.68063993C>G	GRCh38
NC_000023.10:g.67283835C>G , CM000685.1:g.67283835C>G	GRCh37
NC_000023.9:g.67200560C>G	NCBI36
NG_008960.1:g.374465G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355520.6:c.2019G>C MANE Select	ENSP00000347710.5:p.Leu673Phe
ENST00000679748.1:c.1834+9159G>C	ENSP00000505800.1:n.1834+9159G>C
ENST00000679822.1:c.1834+9159G>C	ENSP00000505810.1:n.1834+9159G>C
ENST00000680592.1:n.1525G>C
ENST00000680612.1:c.1686+32877G>C	ENSP00000505365.1:n.1686+32877G>C
ENST00000681408.1:c.1914G>C	ENSP00000506619.1:p.Leu638Phe
ENST00000355520.5:c.2019G>C	ENSP00000347710.5:p.Leu673Phe
ENST00000484842.1:n.635G>C
NM_002547.2:c.2019G>C	NP_002538.1:p.Leu673Phe
XM_005262270.1:c.1834+9159G>C	XP_005262327.1:n.1834+9159G>C
XM_006724653.1:c.2019G>C	XP_006724716.1:p.Leu673Phe
XM_011530961.1:c.2019G>C	XP_011529263.1:p.Leu673Phe
XM_006724653.2:c.2019G>C	XP_006724716.1:p.Leu673Phe
NM_002547.3:c.2019G>C MANE Select	NP_002538.1:p.Leu673Phe