Canonical Allele Identifier: CA412339741

Gene: OFD1

Linked Data

• ClinVar Variation Id: 488753
• ClinVar RCV Id: RCV000579002 ; RCV003147509
• dbSNP Id: rs1555904005
• gnomAD v4: X-13751304-C-T
• COSMIC: COSM6377010 ; COSM6377011
• MyVariant Identifiers: chrX:g.13769423C>T (hg19) ; chrX:g.13751304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.13751304C>T , CM000685.2:g.13751304C>T	GRCh38
NC_000023.10:g.13769423C>T , CM000685.1:g.13769423C>T	GRCh37
NC_000023.9:g.13679344C>T	NCBI36
NG_008872.1:g.21592C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380567.6:c.*684C>T	ENSP00000369941.2:n.*684C>T
ENST00000398395.8:c.*628+1771C>T	ENSP00000381432.5:n.*628+1771C>T
ENST00000464463.6:n.1218+1771C>T
ENST00000490265.6:n.856C>T
ENST00000682237.1:c.991C>T	ENSP00000507121.1:p.Gln331Ter
ENST00000682562.1:c.*684C>T	ENSP00000507874.1:n.*684C>T
ENST00000682953.1:c.*1054C>T	ENSP00000507878.1:n.*1054C>T
ENST00000683055.1:c.830+1771C>T	ENSP00000508191.1:n.830+1771C>T
ENST00000683065.1:n.344+1771C>T
ENST00000683284.1:c.*558C>T	ENSP00000507837.1:n.*558C>T
ENST00000683427.1:c.935+1771C>T	ENSP00000507290.1:n.935+1771C>T
ENST00000683454.1:n.1005C>T
ENST00000683637.1:n.1436C>T
ENST00000683655.1:c.*541C>T	ENSP00000506770.1:n.*541C>T
ENST00000683713.1:c.*558C>T	ENSP00000507797.1:n.*558C>T
ENST00000684577.1:c.*684C>T	ENSP00000507871.1:n.*684C>T
ENST00000340096.11:c.991C>T MANE Select	ENSP00000344314.6:p.Gln331Ter
ENST00000340096.10:c.991C>T	ENSP00000344314.6:p.Gln331Ter
ENST00000380550.6:c.935+1771C>T	ENSP00000369923.3:n.935+1771C>T
ENST00000380567.5:c.571C>T	ENSP00000369941.1:p.Gln191Ter
ENST00000398395.7:c.524+1771C>T	ENSP00000381432.4:n.524+1771C>T
ENST00000490265.5:n.1302C>T
NM_003611.2:c.991C>T	NP_003602.1:p.Gln331Ter
XM_005274599.2:c.1012C>T	XP_005274656.1:p.Gln338Ter
XM_005274602.2:c.1012C>T	XP_005274659.1:p.Gln338Ter
XM_005274603.2:c.956+1771C>T	XP_005274660.1:n.956+1771C>T
XM_005274604.2:c.935+1771C>T	XP_005274661.1:n.935+1771C>T
XM_005274606.2:c.847C>T	XP_005274663.1:p.Gln283Ter
XM_005274607.3:c.571C>T	XP_005274664.1:p.Gln191Ter
XM_011545591.1:c.1012C>T	XP_011543893.1:p.Gln338Ter
XM_011545592.1:c.799C>T	XP_011543894.1:p.Gln267Ter
XM_011545593.1:c.1012C>T	XP_011543895.1:p.Gln338Ter
XM_011545594.1:c.670C>T	XP_011543896.1:p.Gln224Ter
XM_011545595.1:c.670C>T	XP_011543897.1:p.Gln224Ter
XM_011545596.1:c.1012C>T	XP_011543898.1:p.Gln338Ter
XM_011545597.1:c.571C>T	XP_011543899.1:p.Gln191Ter
XM_011545598.1:c.-119C>T	XP_011543900.1:n.-119C>T
XR_247288.2:n.1351C>T
NM_001330209.1:c.935+1771C>T	NP_001317138.1:n.935+1771C>T
NM_001330210.1:c.571C>T	NP_001317139.1:p.Gln191Ter
XM_005274606.4:c.847C>T	XP_005274663.1:p.Gln283Ter
XM_011545592.3:c.799C>T	XP_011543894.1:p.Gln267Ter
XM_011545594.3:c.670C>T	XP_011543896.1:p.Gln224Ter
XM_011545597.2:c.571C>T	XP_011543899.1:p.Gln191Ter
XM_017029909.1:c.571C>T	XP_016885398.1:p.Gln191Ter
XM_017029911.1:c.-79C>T	XP_016885400.1:n.-79C>T
XM_024452468.1:c.-949C>T	XP_024308236.1:n.-949C>T
XM_024452469.1:c.-949C>T	XP_024308237.1:n.-949C>T
XM_024452470.1:c.-949C>T	XP_024308238.1:n.-949C>T
XM_024452471.1:c.-949C>T	XP_024308239.1:n.-949C>T
NM_003611.3:c.991C>T MANE Select	NP_003602.1:p.Gln331Ter
NM_001330209.2:c.935+1771C>T	NP_001317138.1:n.935+1771C>T
NM_001330210.2:c.571C>T	NP_001317139.1:p.Gln191Ter