Canonical Allele Identifier: CA218483366

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2911548
• ClinVar RCV Id: RCV003738554
• dbSNP Id: rs201508241
• gnomAD v2: 11-17519833-G-A
• gnomAD v3: 11-17498286-G-A
• gnomAD v4: 11-17498286-G-A
• MyVariant Identifiers: chr11:g.17519833G>A (hg19) ; chr11:g.17498286G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498286G>A , CM000673.2:g.17498286G>A	GRCh38
NC_000011.9:g.17519833G>A , CM000673.1:g.17519833G>A	GRCh37
NC_000011.8:g.17476409G>A	NCBI36
NG_011883.1:g.51131C>T
NG_011883.2:g.51131C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2381-15C>T MANE Select	ENSP00000005226.7:n.2381-15C>T
ENST00000318024.9:c.1481-15C>T MANE Plus Clinical	ENSP00000317018.4:n.1481-15C>T
ENST00000005226.11:c.2381-15C>T	ENSP00000005226.7:n.2381-15C>T
ENST00000318024.8:c.1481-15C>T	ENSP00000317018.4:n.1481-15C>T
ENST00000526313.5:c.*195-15C>T	ENSP00000432236.1:n.*195-15C>T
ENST00000527020.5:c.1424-15C>T	ENSP00000436934.1:n.1424-15C>T
ENST00000527720.5:c.1388-15C>T	ENSP00000432944.1:n.1388-15C>T
ENST00000529563.5:n.365-15C>T
NM_001297764.1:c.1424-15C>T	NP_001284693.1:n.1424-15C>T
NM_005709.3:c.1481-15C>T	NP_005700.2:n.1481-15C>T
NM_153676.3:c.2381-15C>T	NP_710142.1:n.2381-15C>T
NR_123738.1:n.1516-15C>T
XM_011519831.1:c.2405-15C>T	XP_011518133.1:n.2405-15C>T
XM_011519832.1:c.1634-15C>T	XP_011518134.1:n.1634-15C>T
XM_011519832.3:c.1634-15C>T	XP_011518134.1:n.1634-15C>T
XM_017017075.1:c.2381-15C>T	XP_016872564.1:n.2381-15C>T
XR_001747717.2:n.1640-15C>T
NM_153676.4:c.2381-15C>T MANE Select	NP_710142.1:n.2381-15C>T
NM_001297764.2:c.1424-15C>T	NP_001284693.1:n.1424-15C>T
NM_005709.4:c.1481-15C>T MANE Plus Clinical	NP_005700.2:n.1481-15C>T
NR_123738.2:n.1516-15C>T