Canonical Allele Identifier: CA5904263

Gene: USH1C

Linked Data

• ClinVar Variation Id: 2157092
• ClinVar RCV Id: RCV003077914 ; RCV003250744
• dbSNP Id: rs370437884
• ExAC: 11:17523063 A / G
• gnomAD v2: 11-17523063-A-G
• gnomAD v3: 11-17501516-A-G
• gnomAD v4: 11-17501516-A-G
• MyVariant Identifiers: chr11:g.17523063A>G (hg19) ; chr11:g.17501516A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501516A>G , CM000673.2:g.17501516A>G	GRCh38
NC_000011.9:g.17523063A>G , CM000673.1:g.17523063A>G	GRCh37
NC_000011.8:g.17479639A>G	NCBI36
NG_011883.1:g.47901T>C
NG_011883.2:g.47901T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2246T>C MANE Select	ENSP00000005226.7:p.Met749Thr
ENST00000318024.9:c.1346T>C MANE Plus Clinical	ENSP00000317018.4:p.Met449Thr
ENST00000005226.11:c.2246T>C	ENSP00000005226.7:p.Met749Thr
ENST00000318024.8:c.1346T>C	ENSP00000317018.4:p.Met449Thr
ENST00000526313.5:c.*60T>C	ENSP00000432236.1:n.*60T>C
ENST00000527020.5:c.1289T>C	ENSP00000436934.1:p.Met430Thr
ENST00000527720.5:c.1253T>C	ENSP00000432944.1:p.Met418Thr
ENST00000529563.5:n.230T>C
ENST00000534556.1:n.131T>C
NM_001297764.1:c.1289T>C	NP_001284693.1:p.Met430Thr
NM_005709.3:c.1346T>C	NP_005700.2:p.Met449Thr
NM_153676.3:c.2246T>C	NP_710142.1:p.Met749Thr
NR_123738.1:n.1381T>C
XM_011519831.1:c.2270T>C	XP_011518133.1:p.Met757Thr
XM_011519832.1:c.1499T>C	XP_011518134.1:p.Met500Thr
XM_011519833.1:c.1396T>C	XP_011518135.1:p.Trp466Arg
XR_930841.1:n.1717T>C
XR_930842.1:n.1658T>C
XM_011519832.3:c.1499T>C	XP_011518134.1:p.Met500Thr
XM_017017075.1:c.2246T>C	XP_016872564.1:p.Met749Thr
XR_001747717.2:n.1505T>C
NM_153676.4:c.2246T>C MANE Select	NP_710142.1:p.Met749Thr
NM_001297764.2:c.1289T>C	NP_001284693.1:p.Met430Thr
NM_005709.4:c.1346T>C MANE Plus Clinical	NP_005700.2:p.Met449Thr
NR_123738.2:n.1381T>C