Canonical Allele Identifier: CA261116

Gene: USH1C

Linked Data

• ClinVar Variation Id: 39427
• ClinVar RCV Id: RCV000032622 ; RCV000662094 ; RCV000662095 ; RCV000675046 ; RCV001377937
• dbSNP Id: rs397514500
• gnomAD v2: 11-17552780-C-T
• gnomAD v3: 11-17531233-C-T
• gnomAD v4: 11-17531233-C-T
• MyVariant Identifiers: chr11:g.17552780C>T (hg19) ; chr11:g.17531233C>T (hg38)
• PubMed: PMID:16679490 ; PMID:21487335

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17531233C>T , CM000673.2:g.17531233C>T	GRCh38
NC_000011.9:g.17552780C>T , CM000673.1:g.17552780C>T	GRCh37
NC_000011.8:g.17509356C>T	NCBI36
NG_011883.1:g.18184G>A
NG_011883.2:g.18184G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.308G>A MANE Select	ENSP00000005226.7:p.Arg103His
ENST00000318024.9:c.308G>A MANE Plus Clinical	ENSP00000317018.4:p.Arg103His
ENST00000005226.11:c.308G>A	ENSP00000005226.7:p.Arg103His
ENST00000318024.8:c.308G>A	ENSP00000317018.4:p.Arg103His
ENST00000526181.1:c.341G>A	ENSP00000437128.1:p.Arg114His
ENST00000526313.5:c.308G>A	ENSP00000432236.1:p.Arg103His
ENST00000527020.5:c.308G>A	ENSP00000436934.1:p.Arg103His
ENST00000527720.5:c.215G>A	ENSP00000432944.1:p.Arg72His
NM_001297764.1:c.308G>A	NP_001284693.1:p.Arg103His
NM_005709.3:c.308G>A	NP_005700.2:p.Arg103His
NM_153676.3:c.308G>A	NP_710142.1:p.Arg103His
NR_123738.1:n.417G>A
XM_011519831.1:c.308G>A	XP_011518133.1:p.Arg103His
XM_011519832.1:c.308G>A	XP_011518134.1:p.Arg103His
XM_011519833.1:c.308G>A	XP_011518135.1:p.Arg103His
XM_011519834.1:c.308G>A	XP_011518136.1:p.Arg103His
XR_930841.1:n.417G>A
XR_930842.1:n.417G>A
XM_011519832.3:c.308G>A	XP_011518134.1:p.Arg103His
XM_011519834.2:c.308G>A	XP_011518136.1:p.Arg103His
XM_017017072.1:c.308G>A	XP_016872561.1:p.Arg103His
XM_017017073.1:c.308G>A	XP_016872562.1:p.Arg103His
XM_017017074.1:c.308G>A	XP_016872563.1:p.Arg103His
XM_017017075.1:c.308G>A	XP_016872564.1:p.Arg103His
XR_001747717.2:n.417G>A
NM_153676.4:c.308G>A MANE Select	NP_710142.1:p.Arg103His
NM_001297764.2:c.308G>A	NP_001284693.1:p.Arg103His
NM_005709.4:c.308G>A MANE Plus Clinical	NP_005700.2:p.Arg103His
NR_123738.2:n.417G>A