Canonical Allele Identifier: CA5904202

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2149363
• ClinVar RCV Id: RCV003065445
• dbSNP Id: rs563952065
• ExAC: 11:17522603 C / T
• gnomAD v2: 11-17522603-C-T
• gnomAD v3: 11-17501056-C-T
• gnomAD v4: 11-17501056-C-T
• MyVariant Identifiers: chr11:g.17522603C>T (hg19) ; chr11:g.17501056C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501056C>T , CM000673.2:g.17501056C>T	GRCh38
NC_000011.9:g.17522603C>T , CM000673.1:g.17522603C>T	GRCh37
NC_000011.8:g.17479179C>T	NCBI36
NG_011883.1:g.48361G>A
NG_011883.2:g.48361G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2375G>A MANE Select	ENSP00000005226.7:p.Arg792Gln
ENST00000318024.9:c.1475G>A MANE Plus Clinical	ENSP00000317018.4:p.Arg492Gln
ENST00000005226.11:c.2375G>A	ENSP00000005226.7:p.Arg792Gln
ENST00000318024.8:c.1475G>A	ENSP00000317018.4:p.Arg492Gln
ENST00000526313.5:c.*189G>A	ENSP00000432236.1:n.*189G>A
ENST00000527020.5:c.1418G>A	ENSP00000436934.1:p.Arg473Gln
ENST00000527720.5:c.1382G>A	ENSP00000432944.1:p.Arg461Gln
ENST00000529563.5:n.359G>A
NM_001297764.1:c.1418G>A	NP_001284693.1:p.Arg473Gln
NM_005709.3:c.1475G>A	NP_005700.2:p.Arg492Gln
NM_153676.3:c.2375G>A	NP_710142.1:p.Arg792Gln
NR_123738.1:n.1510G>A
XM_011519831.1:c.2399G>A	XP_011518133.1:p.Arg800Gln
XM_011519832.1:c.1628G>A	XP_011518134.1:p.Arg543Gln
XM_011519833.1:c.*82G>A	XP_011518135.1:n.*82G>A
XR_930841.1:n.1846G>A
XR_930842.1:n.1787G>A
XM_011519832.3:c.1628G>A	XP_011518134.1:p.Arg543Gln
XM_017017075.1:c.2375G>A	XP_016872564.1:p.Arg792Gln
XR_001747717.2:n.1634G>A
NM_153676.4:c.2375G>A MANE Select	NP_710142.1:p.Arg792Gln
NM_001297764.2:c.1418G>A	NP_001284693.1:p.Arg473Gln
NM_005709.4:c.1475G>A MANE Plus Clinical	NP_005700.2:p.Arg492Gln
NR_123738.2:n.1510G>A