Canonical Allele Identifier: CA142347

Gene: USH1C

Linked Data

• ClinVar Variation Id: 48003
• ClinVar RCV Id: RCV000041279 ; RCV000988495 ; RCV001512208 ; RCV001537986
• dbSNP Id: rs1064074
• ExAC: 11:17519742 C / G
• gnomAD v2: 11-17519742-C-G
• gnomAD v3: 11-17498195-C-G
• gnomAD v4: 11-17498195-C-G
• MyVariant Identifiers: chr11:g.17519742C>G (hg19) ; chr11:g.17498195C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498195C>G , CM000673.2:g.17498195C>G	GRCh38
NC_000011.9:g.17519742C>G , CM000673.1:g.17519742C>G	GRCh37
NC_000011.8:g.17476318C>G	NCBI36
NG_011883.1:g.51222G>C
NG_011883.2:g.51222G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2457G>C MANE Select	ENSP00000005226.7:p.Glu819Asp
ENST00000318024.9:c.1557G>C MANE Plus Clinical	ENSP00000317018.4:p.Glu519Asp
ENST00000005226.11:c.2457G>C	ENSP00000005226.7:p.Glu819Asp
ENST00000318024.8:c.1557G>C	ENSP00000317018.4:p.Glu519Asp
ENST00000526313.5:c.*271G>C	ENSP00000432236.1:n.*271G>C
ENST00000527020.5:c.1500G>C	ENSP00000436934.1:p.Glu500Asp
ENST00000527720.5:c.1464G>C	ENSP00000432944.1:p.Glu488Asp
ENST00000529563.5:n.441G>C
NM_001297764.1:c.1500G>C	NP_001284693.1:p.Glu500Asp
NM_005709.3:c.1557G>C	NP_005700.2:p.Glu519Asp
NM_153676.3:c.2457G>C	NP_710142.1:p.Glu819Asp
NR_123738.1:n.1592G>C
XM_011519831.1:c.2481G>C	XP_011518133.1:p.Glu827Asp
XM_011519832.1:c.1710G>C	XP_011518134.1:p.Glu570Asp
XM_011519832.3:c.1710G>C	XP_011518134.1:p.Glu570Asp
XM_017017075.1:c.2457G>C	XP_016872564.1:p.Glu819Asp
XR_001747717.2:n.1716G>C
NM_153676.4:c.2457G>C MANE Select	NP_710142.1:p.Glu819Asp
NM_001297764.2:c.1500G>C	NP_001284693.1:p.Glu500Asp
NM_005709.4:c.1557G>C MANE Plus Clinical	NP_005700.2:p.Glu519Asp
NR_123738.2:n.1592G>C