Canonical Allele Identifier: CA16621896
Gene: OPHN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425502
ClinVar RCV Id: RCV000487544
dbSNP Id: rs1064797373

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68119333C>G , CM000685.2:g.68119333C>G GRCh38
NC_000023.10:g.67339175C>G , CM000685.1:g.67339175C>G GRCh37
NC_000023.9:g.67255900C>G NCBI36
NG_008960.1:g.319125G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355520.6:c.1277-1G>C MANE Select ENSP00000347710.5:n.1277-1G>C
ENST00000679748.1:c.1277-1G>C ENSP00000505800.1:n.1277-1G>C
ENST00000679822.1:c.1277-1G>C ENSP00000505810.1:n.1277-1G>C
ENST00000680592.1:n.783-1G>C
ENST00000680612.1:c.1277-1G>C ENSP00000505365.1:n.1277-1G>C
ENST00000681408.1:c.1172-1G>C ENSP00000506619.1:n.1172-1G>C
ENST00000355520.5:c.1277-1G>C ENSP00000347710.5:n.1277-1G>C
NM_002547.2:c.1277-1G>C NP_002538.1:n.1277-1G>C
XM_005262270.1:c.1277-1G>C XP_005262327.1:n.1277-1G>C
XM_006724653.1:c.1277-1G>C XP_006724716.1:n.1277-1G>C
XM_011530961.1:c.1277-1G>C XP_011529263.1:n.1277-1G>C
XM_006724653.2:c.1277-1G>C XP_006724716.1:n.1277-1G>C
XM_017029555.1:c.1277-1G>C XP_016885044.1:n.1277-1G>C
NM_002547.3:c.1277-1G>C MANE Select NP_002538.1:n.1277-1G>C