Canonical Allele Identifier: CA502036928

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1117876
• ClinVar RCV Id: RCV001446788
• dbSNP Id: rs1181904303
• gnomAD v2: 17-72916100-G-C
• gnomAD v3: 17-74920005-G-C
• gnomAD v4: 17-74920005-G-C
• MyVariant Identifiers: chr17:g.72916100G>C (hg19) ; chr17:g.74920005G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74920005G>C , CM000679.2:g.74920005G>C	GRCh38
NC_000017.10:g.72916100G>C , CM000679.1:g.72916100G>C	GRCh37
NC_000017.9:g.70427695G>C	NCBI36
NG_007882.1:g.8252C>G
NG_033062.1:g.731G>C
NG_007882.2:g.8259C>G
NG_033062.2:g.731G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614341.5:c.831C>G MANE Select	ENSP00000480279.1:p.Leu277=
ENST00000579243.1:c.*430C>G	ENSP00000462568.1:n.*430C>G
ENST00000614341.4:c.831C>G	ENSP00000480279.1:p.Leu277=
NM_001282489.2:c.522C>G	NP_001269418.1:p.Leu174=
NM_173477.4:c.831C>G	NP_775748.2:p.Leu277=
XM_011524296.1:c.522C>G	XP_011522598.1:p.Leu174=
XM_011524296.2:c.522C>G	XP_011522598.1:p.Leu174=
NM_173477.5:c.831C>G MANE Select	NP_775748.2:p.Leu277=
NM_001282489.3:c.522C>G	NP_001269418.1:p.Leu174=