Canonical Allele Identifier: CA142377

Gene: USH1C

Linked Data

• ClinVar Variation Id: 5149
• ClinVar RCV Id: RCV000005456 ; RCV000041291 ; RCV000972120 ; RCV002496267
• dbSNP Id: rs55843567
• ExAC: 11:17548878 C / T
• gnomAD v2: 11-17548878-C-T
• gnomAD v3: 11-17527331-C-T
• gnomAD v4: 11-17527331-C-T
• MyVariant Identifiers: chr11:g.17548878C>T (hg19) ; chr11:g.17527331C>T (hg38)
• PubMed: PMID:12702164 ; PMID:25262649

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17527331C>T , CM000673.2:g.17527331C>T	GRCh38
NC_000011.9:g.17548878C>T , CM000673.1:g.17548878C>T	GRCh37
NC_000011.8:g.17505454C>T	NCBI36
NG_011883.1:g.22086G>A
NG_011883.2:g.22086G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.388G>A MANE Select	ENSP00000005226.7:p.Val130Ile
ENST00000318024.9:c.388G>A MANE Plus Clinical	ENSP00000317018.4:p.Val130Ile
ENST00000005226.11:c.388G>A	ENSP00000005226.7:p.Val130Ile
ENST00000318024.8:c.388G>A	ENSP00000317018.4:p.Val130Ile
ENST00000526181.1:c.421G>A	ENSP00000437128.1:p.Val141Ile
ENST00000526313.5:c.388G>A	ENSP00000432236.1:p.Val130Ile
ENST00000527020.5:c.388G>A	ENSP00000436934.1:p.Val130Ile
ENST00000527720.5:c.295G>A	ENSP00000432944.1:p.Val99Ile
NM_001297764.1:c.388G>A	NP_001284693.1:p.Val130Ile
NM_005709.3:c.388G>A	NP_005700.2:p.Val130Ile
NM_153676.3:c.388G>A	NP_710142.1:p.Val130Ile
NR_123738.1:n.497G>A
XM_011519831.1:c.388G>A	XP_011518133.1:p.Val130Ile
XM_011519832.1:c.388G>A	XP_011518134.1:p.Val130Ile
XM_011519833.1:c.388G>A	XP_011518135.1:p.Val130Ile
XM_011519834.1:c.388G>A	XP_011518136.1:p.Val130Ile
XR_930841.1:n.497G>A
XR_930842.1:n.497G>A
XM_011519832.3:c.388G>A	XP_011518134.1:p.Val130Ile
XM_011519834.2:c.388G>A	XP_011518136.1:p.Val130Ile
XM_017017072.1:c.388G>A	XP_016872561.1:p.Val130Ile
XM_017017073.1:c.388G>A	XP_016872562.1:p.Val130Ile
XM_017017074.1:c.388G>A	XP_016872563.1:p.Val130Ile
XM_017017075.1:c.388G>A	XP_016872564.1:p.Val130Ile
XR_001747717.2:n.497G>A
NM_153676.4:c.388G>A MANE Select	NP_710142.1:p.Val130Ile
NM_001297764.2:c.388G>A	NP_001284693.1:p.Val130Ile
NM_005709.4:c.388G>A MANE Plus Clinical	NP_005700.2:p.Val130Ile
NR_123738.2:n.497G>A