Canonical Allele Identifier: CA5904025

Gene: USH1C

Linked Data

• ClinVar Variation Id: 262730
• ClinVar RCV Id: RCV000244578 ; RCV000294252 ; RCV001537978 ; RCV001711840
• dbSNP Id: rs1055574
• ExAC: 11:17515833 A / G
• gnomAD v2: 11-17515833-A-G
• gnomAD v3: 11-17494286-A-G
• gnomAD v4: 11-17494286-A-G
• MyVariant Identifiers: chr11:g.17515833A>G (hg19) ; chr11:g.17494286A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494286A>G , CM000673.2:g.17494286A>G	GRCh38
NC_000011.9:g.17515833A>G , CM000673.1:g.17515833A>G	GRCh37
NC_000011.8:g.17472409A>G	NCBI36
NG_011883.1:g.55131T>C
NG_011883.2:g.55131T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.*46T>C MANE Select	ENSP00000005226.7:n.*46T>C
ENST00000318024.9:c.*78T>C MANE Plus Clinical	ENSP00000317018.4:n.*78T>C
ENST00000318024.8:c.*78T>C	ENSP00000317018.4:n.*78T>C
ENST00000526313.5:c.*451T>C	ENSP00000432236.1:n.*451T>C
ENST00000527020.5:c.*78T>C	ENSP00000436934.1:n.*78T>C
ENST00000527551.1:n.247T>C
ENST00000527720.5:c.*78T>C	ENSP00000432944.1:n.*78T>C
ENST00000529563.5:n.621T>C
ENST00000624811.1:n.808T>C
NM_001297764.1:c.*78T>C	NP_001284693.1:n.*78T>C
NM_005709.3:c.*78T>C	NP_005700.2:n.*78T>C
NM_153676.3:c.*46T>C	NP_710142.1:n.*46T>C
NR_123738.1:n.1772T>C
XM_011519831.1:c.*78T>C	XP_011518133.1:n.*78T>C
XM_011519832.1:c.*78T>C	XP_011518134.1:n.*78T>C
XM_011519832.3:c.*78T>C	XP_011518134.1:n.*78T>C
XR_001747717.2:n.1896T>C
NM_153676.4:c.*46T>C MANE Select	NP_710142.1:n.*46T>C
NM_001297764.2:c.*78T>C	NP_001284693.1:n.*78T>C
NM_005709.4:c.*78T>C MANE Plus Clinical	NP_005700.2:n.*78T>C
NR_123738.2:n.1772T>C