Canonical Allele Identifier: CA379802945

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1018143
• ClinVar RCV Id: RCV001317403
• dbSNP Id: rs747189986
• gnomAD v3: 11-17501071-C-G
• gnomAD v4: 11-17501071-C-G
• MyVariant Identifiers: chr11:g.17522618C>G (hg19) ; chr11:g.17501071C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501071C>G , CM000673.2:g.17501071C>G	GRCh38
NC_000011.9:g.17522618C>G , CM000673.1:g.17522618C>G	GRCh37
NC_000011.8:g.17479194C>G	NCBI36
NG_011883.1:g.48346G>C
NG_011883.2:g.48346G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2360G>C MANE Select	ENSP00000005226.7:p.Arg787Pro
ENST00000318024.9:c.1460G>C MANE Plus Clinical	ENSP00000317018.4:p.Arg487Pro
ENST00000005226.11:c.2360G>C	ENSP00000005226.7:p.Arg787Pro
ENST00000318024.8:c.1460G>C	ENSP00000317018.4:p.Arg487Pro
ENST00000526313.5:c.*174G>C	ENSP00000432236.1:n.*174G>C
ENST00000527020.5:c.1403G>C	ENSP00000436934.1:p.Arg468Pro
ENST00000527720.5:c.1367G>C	ENSP00000432944.1:p.Arg456Pro
ENST00000529563.5:n.344G>C
NM_001297764.1:c.1403G>C	NP_001284693.1:p.Arg468Pro
NM_005709.3:c.1460G>C	NP_005700.2:p.Arg487Pro
NM_153676.3:c.2360G>C	NP_710142.1:p.Arg787Pro
NR_123738.1:n.1495G>C
XM_011519831.1:c.2384G>C	XP_011518133.1:p.Arg795Pro
XM_011519832.1:c.1613G>C	XP_011518134.1:p.Arg538Pro
XM_011519833.1:c.*67G>C	XP_011518135.1:n.*67G>C
XR_930841.1:n.1831G>C
XR_930842.1:n.1772G>C
XM_011519832.3:c.1613G>C	XP_011518134.1:p.Arg538Pro
XM_017017075.1:c.2360G>C	XP_016872564.1:p.Arg787Pro
XR_001747717.2:n.1619G>C
NM_153676.4:c.2360G>C MANE Select	NP_710142.1:p.Arg787Pro
NM_001297764.2:c.1403G>C	NP_001284693.1:p.Arg468Pro
NM_005709.4:c.1460G>C MANE Plus Clinical	NP_005700.2:p.Arg487Pro
NR_123738.2:n.1495G>C