Canonical Allele Identifier: CA10634219

Gene: USH1C

Linked Data

• ClinVar Variation Id: 303803
• ClinVar RCV Id: RCV000383252 ; RCV002056182
• dbSNP Id: rs151251262
• gnomAD v2: 11-17523044-G-C
• gnomAD v4: 11-17501497-G-C
• MyVariant Identifiers: chr11:g.17523044G>C (hg19) ; chr11:g.17501497G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501497G>C , CM000673.2:g.17501497G>C	GRCh38
NC_000011.9:g.17523044G>C , CM000673.1:g.17523044G>C	GRCh37
NC_000011.8:g.17479620G>C	NCBI36
NG_011883.1:g.47920C>G
NG_011883.2:g.47920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2265C>G MANE Select	ENSP00000005226.7:p.Leu755=
ENST00000318024.9:c.1365C>G MANE Plus Clinical	ENSP00000317018.4:p.Leu455=
ENST00000005226.11:c.2265C>G	ENSP00000005226.7:p.Leu755=
ENST00000318024.8:c.1365C>G	ENSP00000317018.4:p.Leu455=
ENST00000526313.5:c.*79C>G	ENSP00000432236.1:n.*79C>G
ENST00000527020.5:c.1308C>G	ENSP00000436934.1:p.Leu436=
ENST00000527720.5:c.1272C>G	ENSP00000432944.1:p.Leu424=
ENST00000529563.5:n.249C>G
ENST00000534556.1:n.150C>G
NM_001297764.1:c.1308C>G	NP_001284693.1:p.Leu436=
NM_005709.3:c.1365C>G	NP_005700.2:p.Leu455=
NM_153676.3:c.2265C>G	NP_710142.1:p.Leu755=
NR_123738.1:n.1400C>G
XM_011519831.1:c.2289C>G	XP_011518133.1:p.Leu763=
XM_011519832.1:c.1518C>G	XP_011518134.1:p.Leu506=
XM_011519833.1:c.1415C>G	XP_011518135.1:p.Ser472Cys
XR_930841.1:n.1736C>G
XR_930842.1:n.1677C>G
XM_011519832.3:c.1518C>G	XP_011518134.1:p.Leu506=
XM_017017075.1:c.2265C>G	XP_016872564.1:p.Leu755=
XR_001747717.2:n.1524C>G
NM_153676.4:c.2265C>G MANE Select	NP_710142.1:p.Leu755=
NM_001297764.2:c.1308C>G	NP_001284693.1:p.Leu436=
NM_005709.4:c.1365C>G MANE Plus Clinical	NP_005700.2:p.Leu455=
NR_123738.2:n.1400C>G