Canonical Allele Identifier: CA218486366

Gene: USH1C

Linked Data

• dbSNP Id: rs531977664
• gnomAD v3: 11-17501096-C-T
• gnomAD v4: 11-17501096-C-T
• MyVariant Identifiers: chr11:g.17522643C>T (hg19) ; chr11:g.17501096C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501096C>T , CM000673.2:g.17501096C>T	GRCh38
NC_000011.9:g.17522643C>T , CM000673.1:g.17522643C>T	GRCh37
NC_000011.8:g.17479219C>T	NCBI36
NG_011883.1:g.48321G>A
NG_011883.2:g.48321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2335G>A MANE Select	ENSP00000005226.7:p.Val779Met
ENST00000318024.9:c.1435G>A MANE Plus Clinical	ENSP00000317018.4:p.Val479Met
ENST00000005226.11:c.2335G>A	ENSP00000005226.7:p.Val779Met
ENST00000318024.8:c.1435G>A	ENSP00000317018.4:p.Val479Met
ENST00000526313.5:c.*149G>A	ENSP00000432236.1:n.*149G>A
ENST00000527020.5:c.1378G>A	ENSP00000436934.1:p.Val460Met
ENST00000527720.5:c.1342G>A	ENSP00000432944.1:p.Val448Met
ENST00000529563.5:n.319G>A
ENST00000534556.1:n.220G>A
NM_001297764.1:c.1378G>A	NP_001284693.1:p.Val460Met
NM_005709.3:c.1435G>A	NP_005700.2:p.Val479Met
NM_153676.3:c.2335G>A	NP_710142.1:p.Val779Met
NR_123738.1:n.1470G>A
XM_011519831.1:c.2359G>A	XP_011518133.1:p.Val787Met
XM_011519832.1:c.1588G>A	XP_011518134.1:p.Val530Met
XM_011519833.1:c.*42G>A	XP_011518135.1:n.*42G>A
XR_930841.1:n.1806G>A
XR_930842.1:n.1747G>A
XM_011519832.3:c.1588G>A	XP_011518134.1:p.Val530Met
XM_017017075.1:c.2335G>A	XP_016872564.1:p.Val779Met
XR_001747717.2:n.1594G>A
NM_153676.4:c.2335G>A MANE Select	NP_710142.1:p.Val779Met
NM_001297764.2:c.1378G>A	NP_001284693.1:p.Val460Met
NM_005709.4:c.1435G>A MANE Plus Clinical	NP_005700.2:p.Val479Met
NR_123738.2:n.1470G>A