Canonical Allele Identifier: CA182572

Gene: USH1C

Linked Data

• ClinVar Variation Id: 178566
• ClinVar RCV Id: RCV000155314 ; RCV000725400 ; RCV001004553 ; RCV002290962
• dbSNP Id: rs150567427
• ExAC: 11:17527497 C / T
• gnomAD v2: 11-17527497-C-T
• gnomAD v3: 11-17505950-C-T
• gnomAD v4: 11-17505950-C-T
• MyVariant Identifiers: chr11:g.17527497C>T (hg19) ; chr11:g.17505950C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17505950C>T , CM000673.2:g.17505950C>T	GRCh38
NC_000011.9:g.17527497C>T , CM000673.1:g.17527497C>T	GRCh37
NC_000011.8:g.17484073C>T	NCBI36
NG_011883.1:g.43467G>A
NG_011883.2:g.43467G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2014-1G>A MANE Select	ENSP00000005226.7:n.2014-1G>A
ENST00000318024.9:c.1285-3970G>A MANE Plus Clinical	ENSP00000317018.4:n.1285-3970G>A
ENST00000005226.11:c.2014-1G>A	ENSP00000005226.7:n.2014-1G>A
ENST00000318024.8:c.1285-3970G>A	ENSP00000317018.4:n.1285-3970G>A
ENST00000526313.5:c.1211-3970G>A	ENSP00000432236.1:n.1211-3970G>A
ENST00000527020.5:c.1228-3970G>A	ENSP00000436934.1:n.1228-3970G>A
ENST00000527720.5:c.1192-3970G>A	ENSP00000432944.1:n.1192-3970G>A
ENST00000529563.5:n.169-3970G>A
NM_001297764.1:c.1228-3970G>A	NP_001284693.1:n.1228-3970G>A
NM_005709.3:c.1285-3970G>A	NP_005700.2:n.1285-3970G>A
NM_153676.3:c.2014-1G>A	NP_710142.1:n.2014-1G>A
NR_123738.1:n.1320-3970G>A
XM_011519831.1:c.2038-1G>A	XP_011518133.1:n.2038-1G>A
XM_011519832.1:c.1438-3970G>A	XP_011518134.1:n.1438-3970G>A
XM_011519833.1:c.1335-3970G>A	XP_011518135.1:n.1335-3970G>A
XR_930841.1:n.1656-3970G>A
XR_930842.1:n.1597-3970G>A
XM_011519832.3:c.1438-3970G>A	XP_011518134.1:n.1438-3970G>A
XM_017017072.1:c.*3172G>A	XP_016872561.1:n.*3172G>A
XM_017017073.1:c.*3172G>A	XP_016872562.1:n.*3172G>A
XM_017017074.1:c.*3172G>A	XP_016872563.1:n.*3172G>A
XM_017017075.1:c.2014-1G>A	XP_016872564.1:n.2014-1G>A
XR_001747717.2:n.1444-3970G>A
NM_153676.4:c.2014-1G>A MANE Select	NP_710142.1:n.2014-1G>A
NM_001297764.2:c.1228-3970G>A	NP_001284693.1:n.1228-3970G>A
NM_005709.4:c.1285-3970G>A MANE Plus Clinical	NP_005700.2:n.1285-3970G>A
NR_123738.2:n.1320-3970G>A