Canonical Allele Identifier: CA142309

Gene: USH1C

Linked Data

• ClinVar Variation Id: 5148
• ClinVar RCV Id: RCV000005455 ; RCV000041259 ; RCV000755427 ; RCV001276292 ; RCV001797045
• dbSNP Id: rs41282932
• ExAC: 11:17531093 G / C
• gnomAD v2: 11-17531093-G-C
• gnomAD v3: 11-17509546-G-C
• gnomAD v4: 11-17509546-G-C
• MyVariant Identifiers: chr11:g.17531093G>C (hg19) ; chr11:g.17509546G>C (hg38)
• PubMed: PMID:12136232 ; PMID:16963483 ; PMID:24875298

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17509546G>C , CM000673.2:g.17509546G>C	GRCh38
NC_000011.9:g.17531093G>C , CM000673.1:g.17531093G>C	GRCh37
NC_000011.8:g.17487669G>C	NCBI36
NG_011883.1:g.39871C>G
NG_011883.2:g.39871C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.1823C>G MANE Select	ENSP00000005226.7:p.Pro608Arg
ENST00000318024.9:c.1285-7566C>G MANE Plus Clinical	ENSP00000317018.4:n.1285-7566C>G
ENST00000005226.11:c.1823C>G	ENSP00000005226.7:p.Pro608Arg
ENST00000318024.8:c.1285-7566C>G	ENSP00000317018.4:n.1285-7566C>G
ENST00000526313.5:c.1211-7566C>G	ENSP00000432236.1:n.1211-7566C>G
ENST00000527020.5:c.1228-7566C>G	ENSP00000436934.1:n.1228-7566C>G
ENST00000527720.5:c.1192-7566C>G	ENSP00000432944.1:n.1192-7566C>G
ENST00000529563.5:n.168+6909C>G
NM_001297764.1:c.1228-7566C>G	NP_001284693.1:n.1228-7566C>G
NM_005709.3:c.1285-7566C>G	NP_005700.2:n.1285-7566C>G
NM_153676.3:c.1823C>G	NP_710142.1:p.Pro608Arg
NR_123738.1:n.1320-7566C>G
XM_011519831.1:c.1847C>G	XP_011518133.1:p.Pro616Arg
XM_011519832.1:c.1437+2356C>G	XP_011518134.1:n.1437+2356C>G
XM_011519833.1:c.1334+6695C>G	XP_011518135.1:n.1334+6695C>G
XR_930841.1:n.1655+2356C>G
XR_930842.1:n.1596+2356C>G
XM_011519832.3:c.1437+2356C>G	XP_011518134.1:n.1437+2356C>G
XM_017017072.1:c.1847C>G	XP_016872561.1:p.Pro616Arg
XM_017017073.1:c.1790C>G	XP_016872562.1:p.Pro597Arg
XM_017017074.1:c.1555-317C>G	XP_016872563.1:n.1555-317C>G
XM_017017075.1:c.1823C>G	XP_016872564.1:p.Pro608Arg
XR_001747717.2:n.1443+6695C>G
NM_153676.4:c.1823C>G MANE Select	NP_710142.1:p.Pro608Arg
NM_001297764.2:c.1228-7566C>G	NP_001284693.1:n.1228-7566C>G
NM_005709.4:c.1285-7566C>G MANE Plus Clinical	NP_005700.2:n.1285-7566C>G
NR_123738.2:n.1320-7566C>G