Canonical Allele Identifier: CA473305406

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2868135
• ClinVar RCV Id: RCV003703173
• gnomAD v4: 11-17501512-C-T
• COSMIC: COSM4535930 ; COSM4535931
• MyVariant Identifiers: chr11:g.17523059C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501512C>T , CM000673.2:g.17501512C>T	GRCh38
NC_000011.9:g.17523059C>T , CM000673.1:g.17523059C>T	GRCh37
NC_000011.8:g.17479635C>T	NCBI36
NG_011883.1:g.47905G>A
NG_011883.2:g.47905G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2250G>A MANE Select	ENSP00000005226.7:p.Gly750=
ENST00000318024.9:c.1350G>A MANE Plus Clinical	ENSP00000317018.4:p.Gly450=
ENST00000005226.11:c.2250G>A	ENSP00000005226.7:p.Gly750=
ENST00000318024.8:c.1350G>A	ENSP00000317018.4:p.Gly450=
ENST00000526313.5:c.*64G>A	ENSP00000432236.1:n.*64G>A
ENST00000527020.5:c.1293G>A	ENSP00000436934.1:p.Gly431=
ENST00000527720.5:c.1257G>A	ENSP00000432944.1:p.Gly419=
ENST00000529563.5:n.234G>A
ENST00000534556.1:n.135G>A
NM_001297764.1:c.1293G>A	NP_001284693.1:p.Gly431=
NM_005709.3:c.1350G>A	NP_005700.2:p.Gly450=
NM_153676.3:c.2250G>A	NP_710142.1:p.Gly750=
NR_123738.1:n.1385G>A
XM_011519831.1:c.2274G>A	XP_011518133.1:p.Gly758=
XM_011519832.1:c.1503G>A	XP_011518134.1:p.Gly501=
XM_011519833.1:c.1400G>A	XP_011518135.1:p.Gly467Glu
XR_930841.1:n.1721G>A
XR_930842.1:n.1662G>A
XM_011519832.3:c.1503G>A	XP_011518134.1:p.Gly501=
XM_017017075.1:c.2250G>A	XP_016872564.1:p.Gly750=
XR_001747717.2:n.1509G>A
NM_153676.4:c.2250G>A MANE Select	NP_710142.1:p.Gly750=
NM_001297764.2:c.1293G>A	NP_001284693.1:p.Gly431=
NM_005709.4:c.1350G>A MANE Plus Clinical	NP_005700.2:p.Gly450=
NR_123738.2:n.1385G>A