Canonical Allele Identifier: CA674234465

Gene: USH1C

Linked Data

• dbSNP Id: rs1422673719
• gnomAD v4: 11-17498064-C-G
• MyVariant Identifiers: chr11:g.17519611C>G (hg19) ; chr11:g.17498064C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17498064C>G , CM000673.2:g.17498064C>G	GRCh38
NC_000011.9:g.17519611C>G , CM000673.1:g.17519611C>G	GRCh37
NC_000011.8:g.17476187C>G	NCBI36
NG_011883.1:g.51353G>C
NG_011883.2:g.51353G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2490+98G>C MANE Select	ENSP00000005226.7:n.2490+98G>C
ENST00000318024.9:c.1590+98G>C MANE Plus Clinical	ENSP00000317018.4:n.1590+98G>C
ENST00000005226.11:c.2490+98G>C	ENSP00000005226.7:n.2490+98G>C
ENST00000318024.8:c.1590+98G>C	ENSP00000317018.4:n.1590+98G>C
ENST00000526313.5:c.*304+98G>C	ENSP00000432236.1:n.*304+98G>C
ENST00000527020.5:c.1533+98G>C	ENSP00000436934.1:n.1533+98G>C
ENST00000527720.5:c.1497+98G>C	ENSP00000432944.1:n.1497+98G>C
ENST00000529563.5:n.474+98G>C
NM_001297764.1:c.1533+98G>C	NP_001284693.1:n.1533+98G>C
NM_005709.3:c.1590+98G>C	NP_005700.2:n.1590+98G>C
NM_153676.3:c.2490+98G>C	NP_710142.1:n.2490+98G>C
NR_123738.1:n.1625+98G>C
XM_011519831.1:c.2514+98G>C	XP_011518133.1:n.2514+98G>C
XM_011519832.1:c.1743+98G>C	XP_011518134.1:n.1743+98G>C
XM_011519832.3:c.1743+98G>C	XP_011518134.1:n.1743+98G>C
XM_017017075.1:c.2490+98G>C	XP_016872564.1:n.2490+98G>C
XR_001747717.2:n.1749+98G>C
NM_153676.4:c.2490+98G>C MANE Select	NP_710142.1:n.2490+98G>C
NM_001297764.2:c.1533+98G>C	NP_001284693.1:n.1533+98G>C
NM_005709.4:c.1590+98G>C MANE Plus Clinical	NP_005700.2:n.1590+98G>C
NR_123738.2:n.1625+98G>C