Canonical Allele Identifier: CA5904253

Gene: USH1C

Linked Data

• dbSNP Id: rs145832659
• ExAC: 11:17523037 T / C
• gnomAD v2: 11-17523037-T-C
• gnomAD v4: 11-17501490-T-C
• MyVariant Identifiers: chr11:g.17523037T>C (hg19) ; chr11:g.17501490T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501490T>C , CM000673.2:g.17501490T>C	GRCh38
NC_000011.9:g.17523037T>C , CM000673.1:g.17523037T>C	GRCh37
NC_000011.8:g.17479613T>C	NCBI36
NG_011883.1:g.47927A>G
NG_011883.2:g.47927A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2272A>G MANE Select	ENSP00000005226.7:p.Ile758Val
ENST00000318024.9:c.1372A>G MANE Plus Clinical	ENSP00000317018.4:p.Ile458Val
ENST00000005226.11:c.2272A>G	ENSP00000005226.7:p.Ile758Val
ENST00000318024.8:c.1372A>G	ENSP00000317018.4:p.Ile458Val
ENST00000526313.5:c.*86A>G	ENSP00000432236.1:n.*86A>G
ENST00000527020.5:c.1315A>G	ENSP00000436934.1:p.Ile439Val
ENST00000527720.5:c.1279A>G	ENSP00000432944.1:p.Ile427Val
ENST00000529563.5:n.256A>G
ENST00000534556.1:n.157A>G
NM_001297764.1:c.1315A>G	NP_001284693.1:p.Ile439Val
NM_005709.3:c.1372A>G	NP_005700.2:p.Ile458Val
NM_153676.3:c.2272A>G	NP_710142.1:p.Ile758Val
NR_123738.1:n.1407A>G
XM_011519831.1:c.2296A>G	XP_011518133.1:p.Ile766Val
XM_011519832.1:c.1525A>G	XP_011518134.1:p.Ile509Val
XM_011519833.1:c.1422A>G	XP_011518135.1:p.Ala474=
XR_930841.1:n.1743A>G
XR_930842.1:n.1684A>G
XM_011519832.3:c.1525A>G	XP_011518134.1:p.Ile509Val
XM_017017075.1:c.2272A>G	XP_016872564.1:p.Ile758Val
XR_001747717.2:n.1531A>G
NM_153676.4:c.2272A>G MANE Select	NP_710142.1:p.Ile758Val
NM_001297764.2:c.1315A>G	NP_001284693.1:p.Ile439Val
NM_005709.4:c.1372A>G MANE Plus Clinical	NP_005700.2:p.Ile458Val
NR_123738.2:n.1407A>G