Canonical Allele Identifier: CA5905192

Gene: USH1C

Linked Data

• ClinVar Variation Id: 517583
• ClinVar RCV Id: RCV000605324 ; RCV001108638 ; RCV001411031
• dbSNP Id: rs768165881
• ExAC: 11:17554840 C / T
• gnomAD v2: 11-17554840-C-T
• gnomAD v3: 11-17533293-C-T
• gnomAD v4: 11-17533293-C-T
• MyVariant Identifiers: chr11:g.17554840C>T (hg19) ; chr11:g.17533293C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17533293C>T , CM000673.2:g.17533293C>T	GRCh38
NC_000011.9:g.17554840C>T , CM000673.1:g.17554840C>T	GRCh37
NC_000011.8:g.17511416C>T	NCBI36
NG_011883.1:g.16124G>A
NG_011883.2:g.16124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.66G>A MANE Select	ENSP00000005226.7:p.Glu22=
ENST00000318024.9:c.66G>A MANE Plus Clinical	ENSP00000317018.4:p.Glu22=
ENST00000005226.11:c.66G>A	ENSP00000005226.7:p.Glu22=
ENST00000318024.8:c.66G>A	ENSP00000317018.4:p.Glu22=
ENST00000526181.1:c.99G>A	ENSP00000437128.1:p.Glu33=
ENST00000526313.5:c.66G>A	ENSP00000432236.1:p.Glu22=
ENST00000527020.5:c.66G>A	ENSP00000436934.1:p.Glu22=
ENST00000527720.5:c.-28G>A	ENSP00000432944.1:n.-28G>A
NM_001297764.1:c.66G>A	NP_001284693.1:p.Glu22=
NM_005709.3:c.66G>A	NP_005700.2:p.Glu22=
NM_153676.3:c.66G>A	NP_710142.1:p.Glu22=
NR_123738.1:n.175G>A
XM_011519831.1:c.66G>A	XP_011518133.1:p.Glu22=
XM_011519832.1:c.66G>A	XP_011518134.1:p.Glu22=
XM_011519833.1:c.66G>A	XP_011518135.1:p.Glu22=
XM_011519834.1:c.66G>A	XP_011518136.1:p.Glu22=
XR_930841.1:n.175G>A
XR_930842.1:n.175G>A
XM_011519832.3:c.66G>A	XP_011518134.1:p.Glu22=
XM_011519834.2:c.66G>A	XP_011518136.1:p.Glu22=
XM_017017072.1:c.66G>A	XP_016872561.1:p.Glu22=
XM_017017073.1:c.66G>A	XP_016872562.1:p.Glu22=
XM_017017074.1:c.66G>A	XP_016872563.1:p.Glu22=
XM_017017075.1:c.66G>A	XP_016872564.1:p.Glu22=
XR_001747717.2:n.175G>A
NM_153676.4:c.66G>A MANE Select	NP_710142.1:p.Glu22=
NM_001297764.2:c.66G>A	NP_001284693.1:p.Glu22=
NM_005709.4:c.66G>A MANE Plus Clinical	NP_005700.2:p.Glu22=
NR_123738.2:n.175G>A