Canonical Allele Identifier: CA142320

Gene: USH1C

Linked Data

• ClinVar Variation Id: 47989
• ClinVar RCV Id: RCV000041265 ; RCV001538017 ; RCV001538018
• dbSNP Id: rs76769358
• ExAC: 11:17526256 A / G
• gnomAD v2: 11-17526256-A-G
• gnomAD v3: 11-17504709-A-G
• gnomAD v4: 11-17504709-A-G
• MyVariant Identifiers: chr11:g.17526256A>G (hg19) ; chr11:g.17504709A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17504709A>G , CM000673.2:g.17504709A>G	GRCh38
NC_000011.9:g.17526256A>G , CM000673.1:g.17526256A>G	GRCh37
NC_000011.8:g.17482832A>G	NCBI36
NG_011883.1:g.44708T>C
NG_011883.2:g.44708T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2134-12T>C MANE Select	ENSP00000005226.7:n.2134-12T>C
ENST00000318024.9:c.1285-2729T>C MANE Plus Clinical	ENSP00000317018.4:n.1285-2729T>C
ENST00000005226.11:c.2134-12T>C	ENSP00000005226.7:n.2134-12T>C
ENST00000318024.8:c.1285-2729T>C	ENSP00000317018.4:n.1285-2729T>C
ENST00000526313.5:c.1211-2729T>C	ENSP00000432236.1:n.1211-2729T>C
ENST00000527020.5:c.1228-2729T>C	ENSP00000436934.1:n.1228-2729T>C
ENST00000527720.5:c.1192-2729T>C	ENSP00000432944.1:n.1192-2729T>C
ENST00000529563.5:n.169-2729T>C
NM_001297764.1:c.1228-2729T>C	NP_001284693.1:n.1228-2729T>C
NM_005709.3:c.1285-2729T>C	NP_005700.2:n.1285-2729T>C
NM_153676.3:c.2134-12T>C	NP_710142.1:n.2134-12T>C
NR_123738.1:n.1320-2729T>C
XM_011519831.1:c.2158-12T>C	XP_011518133.1:n.2158-12T>C
XM_011519832.1:c.1438-2729T>C	XP_011518134.1:n.1438-2729T>C
XM_011519833.1:c.1335-2729T>C	XP_011518135.1:n.1335-2729T>C
XR_930841.1:n.1656-2729T>C
XR_930842.1:n.1597-2729T>C
XM_011519832.3:c.1438-2729T>C	XP_011518134.1:n.1438-2729T>C
XM_017017072.1:c.*4413T>C	XP_016872561.1:n.*4413T>C
XM_017017073.1:c.*4413T>C	XP_016872562.1:n.*4413T>C
XM_017017074.1:c.*4413T>C	XP_016872563.1:n.*4413T>C
XM_017017075.1:c.2134-12T>C	XP_016872564.1:n.2134-12T>C
XR_001747717.2:n.1444-2729T>C
NM_153676.4:c.2134-12T>C MANE Select	NP_710142.1:n.2134-12T>C
NM_001297764.2:c.1228-2729T>C	NP_001284693.1:n.1228-2729T>C
NM_005709.4:c.1285-2729T>C MANE Plus Clinical	NP_005700.2:n.1285-2729T>C
NR_123738.2:n.1320-2729T>C