Canonical Allele Identifier: CA473305396

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1674452
• ClinVar RCV Id: RCV002208268
• dbSNP Id: rs1438151385
• MyVariant Identifiers: chr11:g.17523043G>A (hg19) ; chr11:g.17501496G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501496G>A , CM000673.2:g.17501496G>A	GRCh38
NC_000011.9:g.17523043G>A , CM000673.1:g.17523043G>A	GRCh37
NC_000011.8:g.17479619G>A	NCBI36
NG_011883.1:g.47921C>T
NG_011883.2:g.47921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2266C>T MANE Select	ENSP00000005226.7:p.Leu756=
ENST00000318024.9:c.1366C>T MANE Plus Clinical	ENSP00000317018.4:p.Leu456=
ENST00000005226.11:c.2266C>T	ENSP00000005226.7:p.Leu756=
ENST00000318024.8:c.1366C>T	ENSP00000317018.4:p.Leu456=
ENST00000526313.5:c.*80C>T	ENSP00000432236.1:n.*80C>T
ENST00000527020.5:c.1309C>T	ENSP00000436934.1:p.Leu437=
ENST00000527720.5:c.1273C>T	ENSP00000432944.1:p.Leu425=
ENST00000529563.5:n.250C>T
ENST00000534556.1:n.151C>T
NM_001297764.1:c.1309C>T	NP_001284693.1:p.Leu437=
NM_005709.3:c.1366C>T	NP_005700.2:p.Leu456=
NM_153676.3:c.2266C>T	NP_710142.1:p.Leu756=
NR_123738.1:n.1401C>T
XM_011519831.1:c.2290C>T	XP_011518133.1:p.Leu764=
XM_011519832.1:c.1519C>T	XP_011518134.1:p.Leu507=
XM_011519833.1:c.1416C>T	XP_011518135.1:p.Ser472=
XR_930841.1:n.1737C>T
XR_930842.1:n.1678C>T
XM_011519832.3:c.1519C>T	XP_011518134.1:p.Leu507=
XM_017017075.1:c.2266C>T	XP_016872564.1:p.Leu756=
XR_001747717.2:n.1525C>T
NM_153676.4:c.2266C>T MANE Select	NP_710142.1:p.Leu756=
NM_001297764.2:c.1309C>T	NP_001284693.1:p.Leu437=
NM_005709.4:c.1366C>T MANE Plus Clinical	NP_005700.2:p.Leu456=
NR_123738.2:n.1401C>T