Canonical Allele Identifier: CA8753925

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1605056
• ClinVar RCV Id: RCV002149701
• dbSNP Id: rs576500685
• ExAC: 17:72915782 C / T
• gnomAD v2: 17-72915782-C-T
• gnomAD v4: 17-74919687-C-T
• MyVariant Identifiers: chr17:g.72915782C>T (hg19) ; chr17:g.74919687C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919687C>T , CM000679.2:g.74919687C>T	GRCh38
NC_000017.10:g.72915782C>T , CM000679.1:g.72915782C>T	GRCh37
NC_000017.9:g.70427377C>T	NCBI36
NG_007882.1:g.8570G>A
NG_033062.1:g.413C>T
NG_007882.2:g.8577G>A
NG_033062.2:g.413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1149G>A MANE Select	ENSP00000480279.1:p.Glu383=
ENST00000579243.1:c.*748G>A	ENSP00000462568.1:n.*748G>A
ENST00000614341.4:c.1149G>A	ENSP00000480279.1:p.Glu383=
NM_001282489.2:c.840G>A	NP_001269418.1:p.Glu280=
NM_173477.4:c.1149G>A	NP_775748.2:p.Glu383=
XM_011524296.1:c.840G>A	XP_011522598.1:p.Glu280=
XM_011524296.2:c.840G>A	XP_011522598.1:p.Glu280=
NM_173477.5:c.1149G>A MANE Select	NP_775748.2:p.Glu383=
NM_001282489.3:c.840G>A	NP_001269418.1:p.Glu280=