Canonical Allele Identifier: CA5904075

Gene: USH1C

Linked Data

• ClinVar Variation Id: 504697
• ClinVar RCV Id: RCV000601958 ; RCV001474632
• dbSNP Id: rs371856107
• ExAC: 11:17517141 C / T
• gnomAD v2: 11-17517141-C-T
• gnomAD v3: 11-17495594-C-T
• gnomAD v4: 11-17495594-C-T
• MyVariant Identifiers: chr11:g.17517141C>T (hg19) ; chr11:g.17495594C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17495594C>T , CM000673.2:g.17495594C>T	GRCh38
NC_000011.9:g.17517141C>T , CM000673.1:g.17517141C>T	GRCh37
NC_000011.8:g.17473717C>T	NCBI36
NG_011883.1:g.53823G>A
NG_011883.2:g.53823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2630G>A MANE Select	ENSP00000005226.7:p.Gly877Glu
ENST00000318024.9:c.1646+1164G>A MANE Plus Clinical	ENSP00000317018.4:n.1646+1164G>A
ENST00000005226.11:c.2630G>A	ENSP00000005226.7:p.Gly877Glu
ENST00000318024.8:c.1646+1164G>A	ENSP00000317018.4:n.1646+1164G>A
ENST00000526313.5:c.*360+1164G>A	ENSP00000432236.1:n.*360+1164G>A
ENST00000527020.5:c.1589+1164G>A	ENSP00000436934.1:n.1589+1164G>A
ENST00000527551.1:n.156+1164G>A
ENST00000527720.5:c.1553+1164G>A	ENSP00000432944.1:n.1553+1164G>A
ENST00000529563.5:n.530+1164G>A
NM_001297764.1:c.1589+1164G>A	NP_001284693.1:n.1589+1164G>A
NM_005709.3:c.1646+1164G>A	NP_005700.2:n.1646+1164G>A
NM_153676.3:c.2630G>A	NP_710142.1:p.Gly877Glu
NR_123738.1:n.1681+1164G>A
XM_011519831.1:c.2570+1164G>A	XP_011518133.1:n.2570+1164G>A
XM_011519832.1:c.1799+1164G>A	XP_011518134.1:n.1799+1164G>A
XM_011519832.3:c.1799+1164G>A	XP_011518134.1:n.1799+1164G>A
XM_017017075.1:c.2630G>A	XP_016872564.1:p.Gly877Glu
XR_001747717.2:n.1805+1164G>A
NM_153676.4:c.2630G>A MANE Select	NP_710142.1:p.Gly877Glu
NM_001297764.2:c.1589+1164G>A	NP_001284693.1:n.1589+1164G>A
NM_005709.4:c.1646+1164G>A MANE Plus Clinical	NP_005700.2:n.1646+1164G>A
NR_123738.2:n.1681+1164G>A