Canonical Allele Identifier: CA5904162

Gene: USH1C

Linked Data

• ClinVar Variation Id: 1342767
• ClinVar RCV Id: RCV001840878
• dbSNP Id: rs148477093
• ExAC: 11:17519756 G / T
• gnomAD v2: 11-17519756-G-T
• gnomAD v3: 11-17498209-G-T
• gnomAD v4: 11-17498209-G-T
• MyVariant Identifiers: chr11:g.17519756G>T (hg19) ; chr11:g.17498209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498209G>T , CM000673.2:g.17498209G>T	GRCh38
NC_000011.9:g.17519756G>T , CM000673.1:g.17519756G>T	GRCh37
NC_000011.8:g.17476332G>T	NCBI36
NG_011883.1:g.51208C>A
NG_011883.2:g.51208C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000005226.12:c.2443C>A MANE Select	ENSP00000005226.7:p.Leu815Met
ENST00000318024.9:c.1543C>A MANE Plus Clinical	ENSP00000317018.4:p.Leu515Met
ENST00000005226.11:c.2443C>A	ENSP00000005226.7:p.Leu815Met
ENST00000318024.8:c.1543C>A	ENSP00000317018.4:p.Leu515Met
ENST00000526313.5:c.*257C>A	ENSP00000432236.1:n.*257C>A
ENST00000527020.5:c.1486C>A	ENSP00000436934.1:p.Leu496Met
ENST00000527720.5:c.1450C>A	ENSP00000432944.1:p.Leu484Met
ENST00000529563.5:n.427C>A
NM_001297764.1:c.1486C>A	NP_001284693.1:p.Leu496Met
NM_005709.3:c.1543C>A	NP_005700.2:p.Leu515Met
NM_153676.3:c.2443C>A	NP_710142.1:p.Leu815Met
NR_123738.1:n.1578C>A
XM_011519831.1:c.2467C>A	XP_011518133.1:p.Leu823Met
XM_011519832.1:c.1696C>A	XP_011518134.1:p.Leu566Met
XM_011519832.3:c.1696C>A	XP_011518134.1:p.Leu566Met
XM_017017075.1:c.2443C>A	XP_016872564.1:p.Leu815Met
XR_001747717.2:n.1702C>A
NM_153676.4:c.2443C>A MANE Select	NP_710142.1:p.Leu815Met
NM_001297764.2:c.1486C>A	NP_001284693.1:p.Leu496Met
NM_005709.4:c.1543C>A MANE Plus Clinical	NP_005700.2:p.Leu515Met
NR_123738.2:n.1578C>A