Canonical Allele Identifier: CA5904260

Gene: USH1C

Linked Data

• ClinVar Variation Id: 992076
• ClinVar RCV Id: RCV001280392 ; RCV001796417 ; RCV002542957
• dbSNP Id: rs143803480
• ExAC: 11:17523049 G / A
• gnomAD v2: 11-17523049-G-A
• gnomAD v3: 11-17501502-G-A
• gnomAD v4: 11-17501502-G-A
• COSMIC: COSM1231911
• MyVariant Identifiers: chr11:g.17523049G>A (hg19) ; chr11:g.17501502G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501502G>A , CM000673.2:g.17501502G>A	GRCh38
NC_000011.9:g.17523049G>A , CM000673.1:g.17523049G>A	GRCh37
NC_000011.8:g.17479625G>A	NCBI36
NG_011883.1:g.47915C>T
NG_011883.2:g.47915C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2260C>T MANE Select	ENSP00000005226.7:p.Arg754Trp
ENST00000318024.9:c.1360C>T MANE Plus Clinical	ENSP00000317018.4:p.Arg454Trp
ENST00000005226.11:c.2260C>T	ENSP00000005226.7:p.Arg754Trp
ENST00000318024.8:c.1360C>T	ENSP00000317018.4:p.Arg454Trp
ENST00000526313.5:c.*74C>T	ENSP00000432236.1:n.*74C>T
ENST00000527020.5:c.1303C>T	ENSP00000436934.1:p.Arg435Trp
ENST00000527720.5:c.1267C>T	ENSP00000432944.1:p.Arg423Trp
ENST00000529563.5:n.244C>T
ENST00000534556.1:n.145C>T
NM_001297764.1:c.1303C>T	NP_001284693.1:p.Arg435Trp
NM_005709.3:c.1360C>T	NP_005700.2:p.Arg454Trp
NM_153676.3:c.2260C>T	NP_710142.1:p.Arg754Trp
NR_123738.1:n.1395C>T
XM_011519831.1:c.2284C>T	XP_011518133.1:p.Arg762Trp
XM_011519832.1:c.1513C>T	XP_011518134.1:p.Arg505Trp
XM_011519833.1:c.1410C>T	XP_011518135.1:p.Ser470=
XR_930841.1:n.1731C>T
XR_930842.1:n.1672C>T
XM_011519832.3:c.1513C>T	XP_011518134.1:p.Arg505Trp
XM_017017075.1:c.2260C>T	XP_016872564.1:p.Arg754Trp
XR_001747717.2:n.1519C>T
NM_153676.4:c.2260C>T MANE Select	NP_710142.1:p.Arg754Trp
NM_001297764.2:c.1303C>T	NP_001284693.1:p.Arg435Trp
NM_005709.4:c.1360C>T MANE Plus Clinical	NP_005700.2:p.Arg454Trp
NR_123738.2:n.1395C>T