Canonical Allele Identifier: CA182568

Gene: USH1C

Linked Data

• ClinVar Variation Id: 178564
• ClinVar RCV Id: RCV000155312 ; RCV000668570 ; RCV001272252 ; RCV002514993
• dbSNP Id: rs201600193
• ExAC: 11:17523069 T / C
• gnomAD v2: 11-17523069-T-C
• gnomAD v3: 11-17501522-T-C
• gnomAD v4: 11-17501522-T-C
• MyVariant Identifiers: chr11:g.17523069T>C (hg19) ; chr11:g.17501522T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501522T>C , CM000673.2:g.17501522T>C	GRCh38
NC_000011.9:g.17523069T>C , CM000673.1:g.17523069T>C	GRCh37
NC_000011.8:g.17479645T>C	NCBI36
NG_011883.1:g.47895A>G
NG_011883.2:g.47895A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2240A>G MANE Select	ENSP00000005226.7:p.Gln747Arg
ENST00000318024.9:c.1340A>G MANE Plus Clinical	ENSP00000317018.4:p.Gln447Arg
ENST00000005226.11:c.2240A>G	ENSP00000005226.7:p.Gln747Arg
ENST00000318024.8:c.1340A>G	ENSP00000317018.4:p.Gln447Arg
ENST00000526313.5:c.*54A>G	ENSP00000432236.1:n.*54A>G
ENST00000527020.5:c.1283A>G	ENSP00000436934.1:p.Gln428Arg
ENST00000527720.5:c.1247A>G	ENSP00000432944.1:p.Gln416Arg
ENST00000529563.5:n.224A>G
ENST00000534556.1:n.125A>G
NM_001297764.1:c.1283A>G	NP_001284693.1:p.Gln428Arg
NM_005709.3:c.1340A>G	NP_005700.2:p.Gln447Arg
NM_153676.3:c.2240A>G	NP_710142.1:p.Gln747Arg
NR_123738.1:n.1375A>G
XM_011519831.1:c.2264A>G	XP_011518133.1:p.Gln755Arg
XM_011519832.1:c.1493A>G	XP_011518134.1:p.Gln498Arg
XM_011519833.1:c.1390A>G	XP_011518135.1:p.Arg464Gly
XR_930841.1:n.1711A>G
XR_930842.1:n.1652A>G
XM_011519832.3:c.1493A>G	XP_011518134.1:p.Gln498Arg
XM_017017075.1:c.2240A>G	XP_016872564.1:p.Gln747Arg
XR_001747717.2:n.1499A>G
NM_153676.4:c.2240A>G MANE Select	NP_710142.1:p.Gln747Arg
NM_001297764.2:c.1283A>G	NP_001284693.1:p.Gln428Arg
NM_005709.4:c.1340A>G MANE Plus Clinical	NP_005700.2:p.Gln447Arg
NR_123738.2:n.1375A>G