Canonical Allele Identifier: CA5904254

Gene: USH1C

Linked Data

• ClinVar Variation Id: 992075
• ClinVar RCV Id: RCV001280391 ; RCV002480925 ; RCV002537892
• dbSNP Id: rs753703742
• ExAC: 11:17523039 C / T
• gnomAD v2: 11-17523039-C-T
• gnomAD v3: 11-17501492-C-T
• gnomAD v4: 11-17501492-C-T
• MyVariant Identifiers: chr11:g.17523039C>T (hg19) ; chr11:g.17501492C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501492C>T , CM000673.2:g.17501492C>T	GRCh38
NC_000011.9:g.17523039C>T , CM000673.1:g.17523039C>T	GRCh37
NC_000011.8:g.17479615C>T	NCBI36
NG_011883.1:g.47925G>A
NG_011883.2:g.47925G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2270G>A MANE Select	ENSP00000005226.7:p.Arg757His
ENST00000318024.9:c.1370G>A MANE Plus Clinical	ENSP00000317018.4:p.Arg457His
ENST00000005226.11:c.2270G>A	ENSP00000005226.7:p.Arg757His
ENST00000318024.8:c.1370G>A	ENSP00000317018.4:p.Arg457His
ENST00000526313.5:c.*84G>A	ENSP00000432236.1:n.*84G>A
ENST00000527020.5:c.1313G>A	ENSP00000436934.1:p.Arg438His
ENST00000527720.5:c.1277G>A	ENSP00000432944.1:p.Arg426His
ENST00000529563.5:n.254G>A
ENST00000534556.1:n.155G>A
NM_001297764.1:c.1313G>A	NP_001284693.1:p.Arg438His
NM_005709.3:c.1370G>A	NP_005700.2:p.Arg457His
NM_153676.3:c.2270G>A	NP_710142.1:p.Arg757His
NR_123738.1:n.1405G>A
XM_011519831.1:c.2294G>A	XP_011518133.1:p.Arg765His
XM_011519832.1:c.1523G>A	XP_011518134.1:p.Arg508His
XM_011519833.1:c.1420G>A	XP_011518135.1:p.Ala474Thr
XR_930841.1:n.1741G>A
XR_930842.1:n.1682G>A
XM_011519832.3:c.1523G>A	XP_011518134.1:p.Arg508His
XM_017017075.1:c.2270G>A	XP_016872564.1:p.Arg757His
XR_001747717.2:n.1529G>A
NM_153676.4:c.2270G>A MANE Select	NP_710142.1:p.Arg757His
NM_001297764.2:c.1313G>A	NP_001284693.1:p.Arg438His
NM_005709.4:c.1370G>A MANE Plus Clinical	NP_005700.2:p.Arg457His
NR_123738.2:n.1405G>A