Canonical Allele Identifier: CA8754000

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1902521
• ClinVar RCV Id: RCV002580342
• dbSNP Id: rs777369997
• ExAC: 17:72916136 C / T
• gnomAD v2: 17-72916136-C-T
• gnomAD v3: 17-74920041-C-T
• gnomAD v4: 17-74920041-C-T
• MyVariant Identifiers: chr17:g.72916136C>T (hg19) ; chr17:g.74920041C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920041C>T , CM000679.2:g.74920041C>T	GRCh38
NC_000017.10:g.72916136C>T , CM000679.1:g.72916136C>T	GRCh37
NC_000017.9:g.70427731C>T	NCBI36
NG_007882.1:g.8216G>A
NG_033062.1:g.767C>T
NG_007882.2:g.8223G>A
NG_033062.2:g.767C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.795G>A MANE Select	ENSP00000480279.1:p.Lys265=
ENST00000579243.1:c.*394G>A	ENSP00000462568.1:n.*394G>A
ENST00000614341.4:c.795G>A	ENSP00000480279.1:p.Lys265=
NM_001282489.2:c.486G>A	NP_001269418.1:p.Lys162=
NM_173477.4:c.795G>A	NP_775748.2:p.Lys265=
XM_011524296.1:c.486G>A	XP_011522598.1:p.Lys162=
XM_011524296.2:c.486G>A	XP_011522598.1:p.Lys162=
NM_173477.5:c.795G>A MANE Select	NP_775748.2:p.Lys265=
NM_001282489.3:c.486G>A	NP_001269418.1:p.Lys162=