Canonical Allele Identifier: CA379803038

Gene: USH1C

Linked Data

• dbSNP Id: rs1168173659
• gnomAD v4: 11-17501093-C-T
• MyVariant Identifiers: chr11:g.17522640C>T (hg19) ; chr11:g.17501093C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501093C>T , CM000673.2:g.17501093C>T	GRCh38
NC_000011.9:g.17522640C>T , CM000673.1:g.17522640C>T	GRCh37
NC_000011.8:g.17479216C>T	NCBI36
NG_011883.1:g.48324G>A
NG_011883.2:g.48324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2338G>A MANE Select	ENSP00000005226.7:p.Val780Ile
ENST00000318024.9:c.1438G>A MANE Plus Clinical	ENSP00000317018.4:p.Val480Ile
ENST00000005226.11:c.2338G>A	ENSP00000005226.7:p.Val780Ile
ENST00000318024.8:c.1438G>A	ENSP00000317018.4:p.Val480Ile
ENST00000526313.5:c.*152G>A	ENSP00000432236.1:n.*152G>A
ENST00000527020.5:c.1381G>A	ENSP00000436934.1:p.Val461Ile
ENST00000527720.5:c.1345G>A	ENSP00000432944.1:p.Val449Ile
ENST00000529563.5:n.322G>A
ENST00000534556.1:n.223G>A
NM_001297764.1:c.1381G>A	NP_001284693.1:p.Val461Ile
NM_005709.3:c.1438G>A	NP_005700.2:p.Val480Ile
NM_153676.3:c.2338G>A	NP_710142.1:p.Val780Ile
NR_123738.1:n.1473G>A
XM_011519831.1:c.2362G>A	XP_011518133.1:p.Val788Ile
XM_011519832.1:c.1591G>A	XP_011518134.1:p.Val531Ile
XM_011519833.1:c.*45G>A	XP_011518135.1:n.*45G>A
XR_930841.1:n.1809G>A
XR_930842.1:n.1750G>A
XM_011519832.3:c.1591G>A	XP_011518134.1:p.Val531Ile
XM_017017075.1:c.2338G>A	XP_016872564.1:p.Val780Ile
XR_001747717.2:n.1597G>A
NM_153676.4:c.2338G>A MANE Select	NP_710142.1:p.Val780Ile
NM_001297764.2:c.1381G>A	NP_001284693.1:p.Val461Ile
NM_005709.4:c.1438G>A MANE Plus Clinical	NP_005700.2:p.Val480Ile
NR_123738.2:n.1473G>A