Canonical Allele Identifier: CA10637964

Gene: USH1C

Linked Data

• ClinVar Variation Id: 303795
• ClinVar RCV Id: RCV000362287
• dbSNP Id: rs886048057
• gnomAD v2: 11-17515503-T-G
• gnomAD v3: 11-17493956-T-G
• gnomAD v4: 11-17493956-T-G
• MyVariant Identifiers: chr11:g.17515503T>G (hg19) ; chr11:g.17493956T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17493956T>G , CM000673.2:g.17493956T>G	GRCh38
NC_000011.9:g.17515503T>G , CM000673.1:g.17515503T>G	GRCh37
NC_000011.8:g.17472079T>G	NCBI36
NG_011883.1:g.55461A>C
NG_011883.2:g.55461A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.*376A>C MANE Select	ENSP00000005226.7:n.*376A>C
ENST00000318024.9:c.*408A>C MANE Plus Clinical	ENSP00000317018.4:n.*408A>C
ENST00000318024.8:c.*408A>C	ENSP00000317018.4:n.*408A>C
ENST00000526313.5:c.*781A>C	ENSP00000432236.1:n.*781A>C
ENST00000527020.5:c.*408A>C	ENSP00000436934.1:n.*408A>C
ENST00000527720.5:c.*408A>C	ENSP00000432944.1:n.*408A>C
ENST00000624811.1:n.1138A>C
NM_001297764.1:c.*408A>C	NP_001284693.1:n.*408A>C
NM_005709.3:c.*408A>C	NP_005700.2:n.*408A>C
NM_153676.3:c.*376A>C	NP_710142.1:n.*376A>C
NR_123738.1:n.2102A>C
XM_011519831.1:c.*408A>C	XP_011518133.1:n.*408A>C
XM_011519832.1:c.*408A>C	XP_011518134.1:n.*408A>C
XM_011519832.3:c.*408A>C	XP_011518134.1:n.*408A>C
XR_001747717.2:n.2226A>C
NM_153676.4:c.*376A>C MANE Select	NP_710142.1:n.*376A>C
NM_001297764.2:c.*408A>C	NP_001284693.1:n.*408A>C
NM_005709.4:c.*408A>C MANE Plus Clinical	NP_005700.2:n.*408A>C
NR_123738.2:n.2102A>C