Canonical Allele Identifier: CA8753943

Gene: USH1G

Linked Data

• ClinVar Variation Id: 1005012
• ClinVar RCV Id: RCV001301804
• dbSNP Id: rs768147159
• ExAC: 17:72915885 G / A
• gnomAD v2: 17-72915885-G-A
• gnomAD v3: 17-74919790-G-A
• gnomAD v4: 17-74919790-G-A
• MyVariant Identifiers: chr17:g.72915885G>A (hg19) ; chr17:g.74919790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.74919790G>A , CM000679.2:g.74919790G>A	GRCh38
NC_000017.10:g.72915885G>A , CM000679.1:g.72915885G>A	GRCh37
NC_000017.9:g.70427480G>A	NCBI36
NG_007882.1:g.8467C>T
NG_033062.1:g.516G>A
NG_007882.2:g.8474C>T
NG_033062.2:g.516G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614341.5:c.1046C>T MANE Select	ENSP00000480279.1:p.Ser349Phe
ENST00000579243.1:c.*645C>T	ENSP00000462568.1:n.*645C>T
ENST00000614341.4:c.1046C>T	ENSP00000480279.1:p.Ser349Phe
NM_001282489.2:c.737C>T	NP_001269418.1:p.Ser246Phe
NM_173477.4:c.1046C>T	NP_775748.2:p.Ser349Phe
XM_011524296.1:c.737C>T	XP_011522598.1:p.Ser246Phe
XM_011524296.2:c.737C>T	XP_011522598.1:p.Ser246Phe
NM_173477.5:c.1046C>T MANE Select	NP_775748.2:p.Ser349Phe
NM_001282489.3:c.737C>T	NP_001269418.1:p.Ser246Phe