Canonical Allele Identifier: CA16609745

Gene: USH1C

Linked Data

• ClinVar Variation Id: 403598
• ClinVar RCV Id: RCV000455318 ; RCV000735772 ; RCV003987539
• dbSNP Id: rs1060499916
• MyVariant Identifiers: chr11:g.17522597C>G (hg19) ; chr11:g.17501050C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501050C>G , CM000673.2:g.17501050C>G	GRCh38
NC_000011.9:g.17522597C>G , CM000673.1:g.17522597C>G	GRCh37
NC_000011.8:g.17479173C>G	NCBI36
NG_011883.1:g.48367G>C
NG_011883.2:g.48367G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2380+1G>C MANE Select	ENSP00000005226.7:n.2380+1G>C
ENST00000318024.9:c.1480+1G>C MANE Plus Clinical	ENSP00000317018.4:n.1480+1G>C
ENST00000005226.11:c.2380+1G>C	ENSP00000005226.7:n.2380+1G>C
ENST00000318024.8:c.1480+1G>C	ENSP00000317018.4:n.1480+1G>C
ENST00000526313.5:c.*194+1G>C	ENSP00000432236.1:n.*194+1G>C
ENST00000527020.5:c.1423+1G>C	ENSP00000436934.1:n.1423+1G>C
ENST00000527720.5:c.1387+1G>C	ENSP00000432944.1:n.1387+1G>C
ENST00000529563.5:n.364+1G>C
NM_001297764.1:c.1423+1G>C	NP_001284693.1:n.1423+1G>C
NM_005709.3:c.1480+1G>C	NP_005700.2:n.1480+1G>C
NM_153676.3:c.2380+1G>C	NP_710142.1:n.2380+1G>C
NR_123738.1:n.1515+1G>C
XM_011519831.1:c.2404+1G>C	XP_011518133.1:n.2404+1G>C
XM_011519832.1:c.1633+1G>C	XP_011518134.1:n.1633+1G>C
XR_930841.1:n.1852G>C
XR_930842.1:n.1793G>C
XM_011519832.3:c.1633+1G>C	XP_011518134.1:n.1633+1G>C
XM_017017075.1:c.2380+1G>C	XP_016872564.1:n.2380+1G>C
XR_001747717.2:n.1639+1G>C
NM_153676.4:c.2380+1G>C MANE Select	NP_710142.1:n.2380+1G>C
NM_001297764.2:c.1423+1G>C	NP_001284693.1:n.1423+1G>C
NM_005709.4:c.1480+1G>C MANE Plus Clinical	NP_005700.2:n.1480+1G>C
NR_123738.2:n.1515+1G>C