Canonical Allele Identifier: CA473304944

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2851567
• ClinVar RCV Id: RCV003691208
• gnomAD v4: 11-17498201-C-T
• MyVariant Identifiers: chr11:g.17519748C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498201C>T , CM000673.2:g.17498201C>T	GRCh38
NC_000011.9:g.17519748C>T , CM000673.1:g.17519748C>T	GRCh37
NC_000011.8:g.17476324C>T	NCBI36
NG_011883.1:g.51216G>A
NG_011883.2:g.51216G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2451G>A MANE Select	ENSP00000005226.7:p.Glu817=
ENST00000318024.9:c.1551G>A MANE Plus Clinical	ENSP00000317018.4:p.Glu517=
ENST00000005226.11:c.2451G>A	ENSP00000005226.7:p.Glu817=
ENST00000318024.8:c.1551G>A	ENSP00000317018.4:p.Glu517=
ENST00000526313.5:c.*265G>A	ENSP00000432236.1:n.*265G>A
ENST00000527020.5:c.1494G>A	ENSP00000436934.1:p.Glu498=
ENST00000527720.5:c.1458G>A	ENSP00000432944.1:p.Glu486=
ENST00000529563.5:n.435G>A
NM_001297764.1:c.1494G>A	NP_001284693.1:p.Glu498=
NM_005709.3:c.1551G>A	NP_005700.2:p.Glu517=
NM_153676.3:c.2451G>A	NP_710142.1:p.Glu817=
NR_123738.1:n.1586G>A
XM_011519831.1:c.2475G>A	XP_011518133.1:p.Glu825=
XM_011519832.1:c.1704G>A	XP_011518134.1:p.Glu568=
XM_011519832.3:c.1704G>A	XP_011518134.1:p.Glu568=
XM_017017075.1:c.2451G>A	XP_016872564.1:p.Glu817=
XR_001747717.2:n.1710G>A
NM_153676.4:c.2451G>A MANE Select	NP_710142.1:p.Glu817=
NM_001297764.2:c.1494G>A	NP_001284693.1:p.Glu498=
NM_005709.4:c.1551G>A MANE Plus Clinical	NP_005700.2:p.Glu517=
NR_123738.2:n.1586G>A