Canonical Allele Identifier: CA147781

Gene: OFD1

Linked Data

• ClinVar Variation Id: 94370
• ClinVar RCV Id: RCV000080339 ; RCV001516878 ; RCV001682772 ; RCV001787882 ; RCV001787883 ; RCV001787884 ; RCV001787885
• dbSNP Id: rs3815049
• ExAC: X:13771576 A / G
• gnomAD v2: X-13771576-A-G
• gnomAD v3: X-13753457-A-G
• gnomAD v4: X-13753457-A-G
• COSMIC: COSN18744795 ; COSN18744832 ; COSN18744874 ; COSN18744914 ; COSN26634296
• MyVariant Identifiers: chrX:g.13771576A>G (hg19) ; chrX:g.13753457A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13753457A>G , CM000685.2:g.13753457A>G	GRCh38
NC_000023.10:g.13771576A>G , CM000685.1:g.13771576A>G	GRCh37
NC_000023.9:g.13681497A>G	NCBI36
NG_008872.1:g.23745A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*822+16A>G	ENSP00000369941.2:n.*822+16A>G
ENST00000398395.8:c.*702+16A>G	ENSP00000381432.5:n.*702+16A>G
ENST00000464463.6:n.1292+16A>G
ENST00000490265.6:n.1658+16A>G
ENST00000682237.1:c.*689+16A>G	ENSP00000507121.1:n.*689+16A>G
ENST00000682562.1:c.*838A>G	ENSP00000507874.1:n.*838A>G
ENST00000682953.1:c.*1856+16A>G	ENSP00000507878.1:n.*1856+16A>G
ENST00000683055.1:c.831-3121A>G	ENSP00000508191.1:n.831-3121A>G
ENST00000683065.1:n.434A>G
ENST00000683284.1:c.*1360+16A>G	ENSP00000507837.1:n.*1360+16A>G
ENST00000683427.1:c.936-3121A>G	ENSP00000507290.1:n.936-3121A>G
ENST00000683454.1:n.1143+16A>G
ENST00000683637.1:n.2238+16A>G
ENST00000683655.1:c.*1343+16A>G	ENSP00000506770.1:n.*1343+16A>G
ENST00000683713.1:c.*1360+16A>G	ENSP00000507797.1:n.*1360+16A>G
ENST00000684577.1:c.*822+16A>G	ENSP00000507871.1:n.*822+16A>G
ENST00000340096.11:c.1129+16A>G MANE Select	ENSP00000344314.6:n.1129+16A>G
ENST00000340096.10:c.1129+16A>G	ENSP00000344314.6:n.1129+16A>G
ENST00000380550.6:c.1009+16A>G	ENSP00000369923.3:n.1009+16A>G
ENST00000380567.5:c.709+16A>G	ENSP00000369941.1:n.709+16A>G
ENST00000398395.7:c.598+16A>G	ENSP00000381432.4:n.598+16A>G
ENST00000490265.5:n.2104+16A>G
NM_003611.2:c.1129+16A>G	NP_003602.1:n.1129+16A>G
XM_005274599.2:c.1150+16A>G	XP_005274656.1:n.1150+16A>G
XM_005274602.2:c.1150+16A>G	XP_005274659.1:n.1150+16A>G
XM_005274603.2:c.1030+16A>G	XP_005274660.1:n.1030+16A>G
XM_005274604.2:c.1009+16A>G	XP_005274661.1:n.1009+16A>G
XM_005274606.2:c.985+16A>G	XP_005274663.1:n.985+16A>G
XM_005274607.3:c.709+16A>G	XP_005274664.1:n.709+16A>G
XM_011545591.1:c.1150+16A>G	XP_011543893.1:n.1150+16A>G
XM_011545592.1:c.937+16A>G	XP_011543894.1:n.937+16A>G
XM_011545593.1:c.1150+16A>G	XP_011543895.1:n.1150+16A>G
XM_011545594.1:c.808+16A>G	XP_011543896.1:n.808+16A>G
XM_011545595.1:c.808+16A>G	XP_011543897.1:n.808+16A>G
XM_011545596.1:c.1150+16A>G	XP_011543898.1:n.1150+16A>G
XM_011545597.1:c.709+16A>G	XP_011543899.1:n.709+16A>G
XM_011545598.1:c.-55+2089A>G	XP_011543900.1:n.-55+2089A>G
XR_247288.2:n.1489+16A>G
NM_001330209.1:c.1009+16A>G	NP_001317138.1:n.1009+16A>G
NM_001330210.1:c.709+16A>G	NP_001317139.1:n.709+16A>G
XM_005274606.4:c.985+16A>G	XP_005274663.1:n.985+16A>G
XM_011545592.3:c.937+16A>G	XP_011543894.1:n.937+16A>G
XM_011545594.3:c.808+16A>G	XP_011543896.1:n.808+16A>G
XM_011545597.2:c.709+16A>G	XP_011543899.1:n.709+16A>G
XM_017029909.1:c.709+16A>G	XP_016885398.1:n.709+16A>G
XM_017029911.1:c.187+16A>G	XP_016885400.1:n.187+16A>G
XM_024452468.1:c.-147+16A>G	XP_024308236.1:n.-147+16A>G
XM_024452469.1:c.-147+16A>G	XP_024308237.1:n.-147+16A>G
XM_024452470.1:c.-147+16A>G	XP_024308238.1:n.-147+16A>G
XM_024452471.1:c.-147+16A>G	XP_024308239.1:n.-147+16A>G
NM_003611.3:c.1129+16A>G MANE Select	NP_003602.1:n.1129+16A>G
NM_001330209.2:c.1009+16A>G	NP_001317138.1:n.1009+16A>G
NM_001330210.2:c.709+16A>G	NP_001317139.1:n.709+16A>G