Canonical Allele Identifier: CA400961406

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1036613
• ClinVar RCV Id: RCV001339650
• dbSNP Id: rs1220105000
• gnomAD v2: 17-72915700-C-T
• gnomAD v3: 17-74919605-C-T
• gnomAD v4: 17-74919605-C-T
• MyVariant Identifiers: chr17:g.72915700C>T (hg19) ; chr17:g.74919605C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919605C>T , CM000679.2:g.74919605C>T	GRCh38
NC_000017.10:g.72915700C>T , CM000679.1:g.72915700C>T	GRCh37
NC_000017.9:g.70427295C>T	NCBI36
NG_007882.1:g.8652G>A
NG_033062.1:g.331C>T
NG_007882.2:g.8659G>A
NG_033062.2:g.331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.1231G>A MANE Select	ENSP00000480279.1:p.Glu411Lys
ENST00000579243.1:c.*830G>A	ENSP00000462568.1:n.*830G>A
ENST00000614341.4:c.1231G>A	ENSP00000480279.1:p.Glu411Lys
NM_001282489.2:c.922G>A	NP_001269418.1:p.Glu308Lys
NM_173477.4:c.1231G>A	NP_775748.2:p.Glu411Lys
XM_011524296.1:c.922G>A	XP_011522598.1:p.Glu308Lys
XM_011524296.2:c.922G>A	XP_011522598.1:p.Glu308Lys
NM_173477.5:c.1231G>A MANE Select	NP_775748.2:p.Glu411Lys
NM_001282489.3:c.922G>A	NP_001269418.1:p.Glu308Lys