Canonical Allele Identifier: CA142646

Gene: USH1G

Linked Data

• ClinVar Variation Id: 48126
• ClinVar RCV Id: RCV000041414 ; RCV000724716 ; RCV001123313 ; RCV004541211
• dbSNP Id: rs139897506
• ExAC: 17:72915673 G / C
• gnomAD v2: 17-72915673-G-C
• gnomAD v3: 17-74919578-G-C
• gnomAD v4: 17-74919578-G-C
• MyVariant Identifiers: chr17:g.72915673G>C (hg19) ; chr17:g.74919578G>C (hg38)
• PubMed: PMID:23591405

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919578G>C , CM000679.2:g.74919578G>C	GRCh38
NC_000017.10:g.72915673G>C , CM000679.1:g.72915673G>C	GRCh37
NC_000017.9:g.70427268G>C	NCBI36
NG_007882.1:g.8679C>G
NG_033062.1:g.304G>C
NG_007882.2:g.8686C>G
NG_033062.2:g.304G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1258C>G MANE Select	ENSP00000480279.1:p.Leu420Val
ENST00000579243.1:c.*857C>G	ENSP00000462568.1:n.*857C>G
ENST00000614341.4:c.1258C>G	ENSP00000480279.1:p.Leu420Val
NM_001282489.2:c.949C>G	NP_001269418.1:p.Leu317Val
NM_173477.4:c.1258C>G	NP_775748.2:p.Leu420Val
XM_011524296.1:c.949C>G	XP_011522598.1:p.Leu317Val
XM_011524296.2:c.949C>G	XP_011522598.1:p.Leu317Val
NM_173477.5:c.1258C>G MANE Select	NP_775748.2:p.Leu420Val
NM_001282489.3:c.949C>G	NP_001269418.1:p.Leu317Val