Canonical Allele Identifier: CA5904205

Gene: USH1C

Linked Data

• ClinVar Variation Id: 761650
• ClinVar RCV Id: RCV000939713 ; RCV001832142
• dbSNP Id: rs746011575
• ExAC: 11:17522605 C / T
• gnomAD v2: 11-17522605-C-T
• gnomAD v3: 11-17501058-C-T
• gnomAD v4: 11-17501058-C-T
• MyVariant Identifiers: chr11:g.17522605C>T (hg19) ; chr11:g.17501058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501058C>T , CM000673.2:g.17501058C>T	GRCh38
NC_000011.9:g.17522605C>T , CM000673.1:g.17522605C>T	GRCh37
NC_000011.8:g.17479181C>T	NCBI36
NG_011883.1:g.48359G>A
NG_011883.2:g.48359G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2373G>A MANE Select	ENSP00000005226.7:p.Glu791=
ENST00000318024.9:c.1473G>A MANE Plus Clinical	ENSP00000317018.4:p.Glu491=
ENST00000005226.11:c.2373G>A	ENSP00000005226.7:p.Glu791=
ENST00000318024.8:c.1473G>A	ENSP00000317018.4:p.Glu491=
ENST00000526313.5:c.*187G>A	ENSP00000432236.1:n.*187G>A
ENST00000527020.5:c.1416G>A	ENSP00000436934.1:p.Glu472=
ENST00000527720.5:c.1380G>A	ENSP00000432944.1:p.Glu460=
ENST00000529563.5:n.357G>A
NM_001297764.1:c.1416G>A	NP_001284693.1:p.Glu472=
NM_005709.3:c.1473G>A	NP_005700.2:p.Glu491=
NM_153676.3:c.2373G>A	NP_710142.1:p.Glu791=
NR_123738.1:n.1508G>A
XM_011519831.1:c.2397G>A	XP_011518133.1:p.Glu799=
XM_011519832.1:c.1626G>A	XP_011518134.1:p.Glu542=
XM_011519833.1:c.*80G>A	XP_011518135.1:n.*80G>A
XR_930841.1:n.1844G>A
XR_930842.1:n.1785G>A
XM_011519832.3:c.1626G>A	XP_011518134.1:p.Glu542=
XM_017017075.1:c.2373G>A	XP_016872564.1:p.Glu791=
XR_001747717.2:n.1632G>A
NM_153676.4:c.2373G>A MANE Select	NP_710142.1:p.Glu791=
NM_001297764.2:c.1416G>A	NP_001284693.1:p.Glu472=
NM_005709.4:c.1473G>A MANE Plus Clinical	NP_005700.2:p.Glu491=
NR_123738.2:n.1508G>A