Canonical Allele Identifier: CA10630477

Gene: USH1C

Linked Data

• ClinVar Variation Id: 303797
• ClinVar RCV Id: RCV000319324 ; RCV001537977 ; RCV001711780
• dbSNP Id: rs1055577
• gnomAD v2: 11-17515693-G-A
• gnomAD v3: 11-17494146-G-A
• gnomAD v4: 11-17494146-G-A
• MyVariant Identifiers: chr11:g.17515693G>A (hg19) ; chr11:g.17494146G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17494146G>A , CM000673.2:g.17494146G>A	GRCh38
NC_000011.9:g.17515693G>A , CM000673.1:g.17515693G>A	GRCh37
NC_000011.8:g.17472269G>A	NCBI36
NG_011883.1:g.55271C>T
NG_011883.2:g.55271C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.*186C>T MANE Select	ENSP00000005226.7:n.*186C>T
ENST00000318024.9:c.*218C>T MANE Plus Clinical	ENSP00000317018.4:n.*218C>T
ENST00000318024.8:c.*218C>T	ENSP00000317018.4:n.*218C>T
ENST00000526313.5:c.*591C>T	ENSP00000432236.1:n.*591C>T
ENST00000527020.5:c.*218C>T	ENSP00000436934.1:n.*218C>T
ENST00000527720.5:c.*218C>T	ENSP00000432944.1:n.*218C>T
ENST00000529563.5:n.761C>T
ENST00000624811.1:n.948C>T
NM_001297764.1:c.*218C>T	NP_001284693.1:n.*218C>T
NM_005709.3:c.*218C>T	NP_005700.2:n.*218C>T
NM_153676.3:c.*186C>T	NP_710142.1:n.*186C>T
NR_123738.1:n.1912C>T
XM_011519831.1:c.*218C>T	XP_011518133.1:n.*218C>T
XM_011519832.1:c.*218C>T	XP_011518134.1:n.*218C>T
XM_011519832.3:c.*218C>T	XP_011518134.1:n.*218C>T
XR_001747717.2:n.2036C>T
NM_153676.4:c.*186C>T MANE Select	NP_710142.1:n.*186C>T
NM_001297764.2:c.*218C>T	NP_001284693.1:n.*218C>T
NM_005709.4:c.*218C>T MANE Plus Clinical	NP_005700.2:n.*218C>T
NR_123738.2:n.1912C>T