Canonical Allele Identifier: CA473303896

Gene: USH1C

Linked Data

• ClinVar Variation Id: 505367
• ClinVar RCV Id: RCV000610204 ; RCV000930130
• dbSNP Id: rs1385487954
• gnomAD v2: 11-17517203-T-C
• gnomAD v3: 11-17495656-T-C
• gnomAD v4: 11-17495656-T-C
• MyVariant Identifiers: chr11:g.17517203T>C (hg19) ; chr11:g.17495656T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17495656T>C , CM000673.2:g.17495656T>C	GRCh38
NC_000011.9:g.17517203T>C , CM000673.1:g.17517203T>C	GRCh37
NC_000011.8:g.17473779T>C	NCBI36
NG_011883.1:g.53761A>G
NG_011883.2:g.53761A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2568A>G MANE Select	ENSP00000005226.7:p.Val856=
ENST00000318024.9:c.1646+1102A>G MANE Plus Clinical	ENSP00000317018.4:n.1646+1102A>G
ENST00000005226.11:c.2568A>G	ENSP00000005226.7:p.Val856=
ENST00000318024.8:c.1646+1102A>G	ENSP00000317018.4:n.1646+1102A>G
ENST00000526313.5:c.*360+1102A>G	ENSP00000432236.1:n.*360+1102A>G
ENST00000527020.5:c.1589+1102A>G	ENSP00000436934.1:n.1589+1102A>G
ENST00000527551.1:n.156+1102A>G
ENST00000527720.5:c.1553+1102A>G	ENSP00000432944.1:n.1553+1102A>G
ENST00000529563.5:n.530+1102A>G
NM_001297764.1:c.1589+1102A>G	NP_001284693.1:n.1589+1102A>G
NM_005709.3:c.1646+1102A>G	NP_005700.2:n.1646+1102A>G
NM_153676.3:c.2568A>G	NP_710142.1:p.Val856=
NR_123738.1:n.1681+1102A>G
XM_011519831.1:c.2570+1102A>G	XP_011518133.1:n.2570+1102A>G
XM_011519832.1:c.1799+1102A>G	XP_011518134.1:n.1799+1102A>G
XM_011519832.3:c.1799+1102A>G	XP_011518134.1:n.1799+1102A>G
XM_017017075.1:c.2568A>G	XP_016872564.1:p.Val856=
XR_001747717.2:n.1805+1102A>G
NM_153676.4:c.2568A>G MANE Select	NP_710142.1:p.Val856=
NM_001297764.2:c.1589+1102A>G	NP_001284693.1:n.1589+1102A>G
NM_005709.4:c.1646+1102A>G MANE Plus Clinical	NP_005700.2:n.1646+1102A>G
NR_123738.2:n.1681+1102A>G