Canonical Allele Identifier: CA5904214

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1042355
• ClinVar RCV Id: RCV001346292 ; RCV001831123
• dbSNP Id: rs775036726
• ExAC: 11:17522661 C / T
• gnomAD v2: 11-17522661-C-T
• gnomAD v3: 11-17501114-C-T
• gnomAD v4: 11-17501114-C-T
• MyVariant Identifiers: chr11:g.17522661C>T (hg19) ; chr11:g.17501114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501114C>T , CM000673.2:g.17501114C>T	GRCh38
NC_000011.9:g.17522661C>T , CM000673.1:g.17522661C>T	GRCh37
NC_000011.8:g.17479237C>T	NCBI36
NG_011883.1:g.48303G>A
NG_011883.2:g.48303G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2317G>A MANE Select	ENSP00000005226.7:p.Asp773Asn
ENST00000318024.9:c.1417G>A MANE Plus Clinical	ENSP00000317018.4:p.Asp473Asn
ENST00000005226.11:c.2317G>A	ENSP00000005226.7:p.Asp773Asn
ENST00000318024.8:c.1417G>A	ENSP00000317018.4:p.Asp473Asn
ENST00000526313.5:c.*131G>A	ENSP00000432236.1:n.*131G>A
ENST00000527020.5:c.1360G>A	ENSP00000436934.1:p.Asp454Asn
ENST00000527720.5:c.1324G>A	ENSP00000432944.1:p.Asp442Asn
ENST00000529563.5:n.301G>A
ENST00000534556.1:n.202G>A
NM_001297764.1:c.1360G>A	NP_001284693.1:p.Asp454Asn
NM_005709.3:c.1417G>A	NP_005700.2:p.Asp473Asn
NM_153676.3:c.2317G>A	NP_710142.1:p.Asp773Asn
NR_123738.1:n.1452G>A
XM_011519831.1:c.2341G>A	XP_011518133.1:p.Asp781Asn
XM_011519832.1:c.1570G>A	XP_011518134.1:p.Asp524Asn
XM_011519833.1:c.*24G>A	XP_011518135.1:n.*24G>A
XR_930841.1:n.1788G>A
XR_930842.1:n.1729G>A
XM_011519832.3:c.1570G>A	XP_011518134.1:p.Asp524Asn
XM_017017075.1:c.2317G>A	XP_016872564.1:p.Asp773Asn
XR_001747717.2:n.1576G>A
NM_153676.4:c.2317G>A MANE Select	NP_710142.1:p.Asp773Asn
NM_001297764.2:c.1360G>A	NP_001284693.1:p.Asp454Asn
NM_005709.4:c.1417G>A MANE Plus Clinical	NP_005700.2:p.Asp473Asn
NR_123738.2:n.1452G>A