Canonical Allele Identifier: CA182721

Gene: USH1C

Linked Data

• ClinVar Variation Id: 178643
• ClinVar RCV Id: RCV000155398 ; RCV000889692 ; RCV001106340
• dbSNP Id: rs35336155
• ExAC: 11:17544404 C / G
• gnomAD v2: 11-17544404-C-G
• gnomAD v3: 11-17522857-C-G
• gnomAD v4: 11-17522857-C-G
• MyVariant Identifiers: chr11:g.17544404C>G (hg19) ; chr11:g.17522857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17522857C>G , CM000673.2:g.17522857C>G	GRCh38
NC_000011.9:g.17544404C>G , CM000673.1:g.17544404C>G	GRCh37
NC_000011.8:g.17500980C>G	NCBI36
NG_011883.1:g.26560G>C
NG_011883.2:g.26560G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.946G>C MANE Select	ENSP00000005226.7:p.Glu316Gln
ENST00000318024.9:c.946G>C MANE Plus Clinical	ENSP00000317018.4:p.Glu316Gln
ENST00000005226.11:c.946G>C	ENSP00000005226.7:p.Glu316Gln
ENST00000318024.8:c.946G>C	ENSP00000317018.4:p.Glu316Gln
ENST00000526313.5:c.946G>C	ENSP00000432236.1:p.Glu316Gln
ENST00000527020.5:c.889G>C	ENSP00000436934.1:p.Glu297Gln
ENST00000527720.5:c.853G>C	ENSP00000432944.1:p.Glu285Gln
NM_001297764.1:c.889G>C	NP_001284693.1:p.Glu297Gln
NM_005709.3:c.946G>C	NP_005700.2:p.Glu316Gln
NM_153676.3:c.946G>C	NP_710142.1:p.Glu316Gln
NR_123738.1:n.1055G>C
XM_011519831.1:c.946G>C	XP_011518133.1:p.Glu316Gln
XM_011519832.1:c.946G>C	XP_011518134.1:p.Glu316Gln
XM_011519833.1:c.946G>C	XP_011518135.1:p.Glu316Gln
XM_011519834.1:c.946G>C	XP_011518136.1:p.Glu316Gln
XR_930841.1:n.1055G>C
XR_930842.1:n.1055G>C
XM_011519832.3:c.946G>C	XP_011518134.1:p.Glu316Gln
XM_011519834.2:c.946G>C	XP_011518136.1:p.Glu316Gln
XM_017017072.1:c.946G>C	XP_016872561.1:p.Glu316Gln
XM_017017073.1:c.889G>C	XP_016872562.1:p.Glu297Gln
XM_017017074.1:c.946G>C	XP_016872563.1:p.Glu316Gln
XM_017017075.1:c.946G>C	XP_016872564.1:p.Glu316Gln
XR_001747717.2:n.1055G>C
NM_153676.4:c.946G>C MANE Select	NP_710142.1:p.Glu316Gln
NM_001297764.2:c.889G>C	NP_001284693.1:p.Glu297Gln
NM_005709.4:c.946G>C MANE Plus Clinical	NP_005700.2:p.Glu316Gln
NR_123738.2:n.1055G>C