Canonical Allele Identifier: CA8753918

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1120134
• ClinVar RCV Id: RCV001449832
• dbSNP Id: rs146287064
• ExAC: 17:72915752 C / A
• gnomAD v2: 17-72915752-C-A
• gnomAD v3: 17-74919657-C-A
• gnomAD v4: 17-74919657-C-A
• MyVariant Identifiers: chr17:g.72915752C>A (hg19) ; chr17:g.74919657C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919657C>A , CM000679.2:g.74919657C>A	GRCh38
NC_000017.10:g.72915752C>A , CM000679.1:g.72915752C>A	GRCh37
NC_000017.9:g.70427347C>A	NCBI36
NG_007882.1:g.8600G>T
NG_033062.1:g.383C>A
NG_007882.2:g.8607G>T
NG_033062.2:g.383C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1179G>T MANE Select	ENSP00000480279.1:p.Glu393Asp
ENST00000579243.1:c.*778G>T	ENSP00000462568.1:n.*778G>T
ENST00000614341.4:c.1179G>T	ENSP00000480279.1:p.Glu393Asp
NM_001282489.2:c.870G>T	NP_001269418.1:p.Glu290Asp
NM_173477.4:c.1179G>T	NP_775748.2:p.Glu393Asp
XM_011524296.1:c.870G>T	XP_011522598.1:p.Glu290Asp
XM_011524296.2:c.870G>T	XP_011522598.1:p.Glu290Asp
NM_173477.5:c.1179G>T MANE Select	NP_775748.2:p.Glu393Asp
NM_001282489.3:c.870G>T	NP_001269418.1:p.Glu290Asp