Canonical Allele Identifier: CA5904259

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1661378
• ClinVar RCV Id: RCV002176595
• dbSNP Id: rs143803480
• ExAC: 11:17523049 G / T
• gnomAD v4: 11-17501502-G-T
• MyVariant Identifiers: chr11:g.17523049G>T (hg19) ; chr11:g.17501502G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2260C>A MANE Select	ENSP00000005226.7:p.Arg754=
ENST00000318024.9:c.1360C>A MANE Plus Clinical	ENSP00000317018.4:p.Arg454=
ENST00000005226.11:c.2260C>A	ENSP00000005226.7:p.Arg754=
ENST00000318024.8:c.1360C>A	ENSP00000317018.4:p.Arg454=
ENST00000526313.5:c.*74C>A	ENSP00000432236.1:n.*74C>A
ENST00000527020.5:c.1303C>A	ENSP00000436934.1:p.Arg435=
ENST00000527720.5:c.1267C>A	ENSP00000432944.1:p.Arg423=
ENST00000529563.5:n.244C>A
ENST00000534556.1:n.145C>A
NM_001297764.1:c.1303C>A	NP_001284693.1:p.Arg435=
NM_005709.3:c.1360C>A	NP_005700.2:p.Arg454=
NM_153676.3:c.2260C>A	NP_710142.1:p.Arg754=
NR_123738.1:n.1395C>A
XM_011519831.1:c.2284C>A	XP_011518133.1:p.Arg762=
XM_011519832.1:c.1513C>A	XP_011518134.1:p.Arg505=
XM_011519833.1:c.1410C>A	XP_011518135.1:p.Ser470=
XR_930841.1:n.1731C>A
XR_930842.1:n.1672C>A
XM_011519832.3:c.1513C>A	XP_011518134.1:p.Arg505=
XM_017017075.1:c.2260C>A	XP_016872564.1:p.Arg754=
XR_001747717.2:n.1519C>A
NM_153676.4:c.2260C>A MANE Select	NP_710142.1:p.Arg754=
NM_001297764.2:c.1303C>A	NP_001284693.1:p.Arg435=
NM_005709.4:c.1360C>A MANE Plus Clinical	NP_005700.2:p.Arg454=
NR_123738.2:n.1395C>A