Canonical Allele Identifier: CA473304997

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1160635
• ClinVar RCV Id: RCV001504819
• dbSNP Id: rs2133772780
• MyVariant Identifiers: chr11:g.17519805T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498258T>C , CM000673.2:g.17498258T>C	GRCh38
NC_000011.9:g.17519805T>C , CM000673.1:g.17519805T>C	GRCh37
NC_000011.8:g.17476381T>C	NCBI36
NG_011883.1:g.51159A>G
NG_011883.2:g.51159A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2394A>G MANE Select	ENSP00000005226.7:p.Lys798=
ENST00000318024.9:c.1494A>G MANE Plus Clinical	ENSP00000317018.4:p.Lys498=
ENST00000005226.11:c.2394A>G	ENSP00000005226.7:p.Lys798=
ENST00000318024.8:c.1494A>G	ENSP00000317018.4:p.Lys498=
ENST00000526313.5:c.*208A>G	ENSP00000432236.1:n.*208A>G
ENST00000527020.5:c.1437A>G	ENSP00000436934.1:p.Lys479=
ENST00000527720.5:c.1401A>G	ENSP00000432944.1:p.Lys467=
ENST00000529563.5:n.378A>G
NM_001297764.1:c.1437A>G	NP_001284693.1:p.Lys479=
NM_005709.3:c.1494A>G	NP_005700.2:p.Lys498=
NM_153676.3:c.2394A>G	NP_710142.1:p.Lys798=
NR_123738.1:n.1529A>G
XM_011519831.1:c.2418A>G	XP_011518133.1:p.Lys806=
XM_011519832.1:c.1647A>G	XP_011518134.1:p.Lys549=
XM_011519832.3:c.1647A>G	XP_011518134.1:p.Lys549=
XM_017017075.1:c.2394A>G	XP_016872564.1:p.Lys798=
XR_001747717.2:n.1653A>G
NM_153676.4:c.2394A>G MANE Select	NP_710142.1:p.Lys798=
NM_001297764.2:c.1437A>G	NP_001284693.1:p.Lys479=
NM_005709.4:c.1494A>G MANE Plus Clinical	NP_005700.2:p.Lys498=
NR_123738.2:n.1529A>G