Canonical Allele Identifier: CA136466

Gene: GJB6

Linked Data

• ClinVar Variation Id: 45505
• ClinVar RCV Id: RCV000038710 ; RCV000988962 ; RCV001510614 ; RCV003944922
• dbSNP Id: rs200674715
• ExAC: 13:20797013 T / C
• gnomAD v2: 13-20797013-T-C
• gnomAD v3: 13-20222874-T-C
• gnomAD v4: 13-20222874-T-C
• MyVariant Identifiers: chr13:g.20797013T>C (hg19) ; chr13:g.20222874T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20222874T>C , CM000675.2:g.20222874T>C	GRCh38
NC_000013.10:g.20797013T>C , CM000675.1:g.20797013T>C	GRCh37
NC_000013.9:g.19695013T>C	NCBI36
NG_008323.1:g.14522A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000241124.11:c.607A>G	ENSP00000241124.6:p.Met203Val
ENST00000400066.8:c.607A>G	ENSP00000382939.3:p.Met203Val
ENST00000636852.1:c.607A>G	ENSP00000489698.1:p.Met203Val
ENST00000643121.1:c.607A>G	ENSP00000494468.1:p.Met203Val
ENST00000643211.1:c.607A>G	ENSP00000495841.1:p.Met203Val
ENST00000644283.1:c.607A>G	ENSP00000495320.1:p.Met203Val
ENST00000644667.1:c.607A>G	ENSP00000493621.1:p.Met203Val
ENST00000647029.1:c.607A>G MANE Select	ENSP00000493834.1:p.Met203Val
ENST00000647243.1:c.607A>G	ENSP00000494733.1:p.Met203Val
ENST00000241124.10:c.607A>G	ENSP00000241124.6:p.Met203Val
ENST00000356192.6:c.607A>G	ENSP00000348521.6:p.Met203Val
ENST00000400065.7:c.607A>G	ENSP00000382938.3:p.Met203Val
ENST00000400066.7:c.607A>G	ENSP00000382939.3:p.Met203Val
NM_001110219.2:c.607A>G	NP_001103689.1:p.Met203Val
NM_001110220.2:c.607A>G	NP_001103690.1:p.Met203Val
NM_001110221.2:c.607A>G	NP_001103691.1:p.Met203Val
NM_006783.4:c.607A>G	NP_006774.2:p.Met203Val
NM_001110219.3:c.607A>G MANE Select	NP_001103689.1:p.Met203Val
NM_001370090.1:c.607A>G	NP_001357019.1:p.Met203Val
NM_001370091.1:c.607A>G	NP_001357020.1:p.Met203Val
NM_001370092.1:c.607A>G	NP_001357021.1:p.Met203Val
NM_001110220.3:c.607A>G	NP_001103690.1:p.Met203Val
NM_001110221.3:c.607A>G	NP_001103691.1:p.Met203Val
NM_006783.5:c.607A>G	NP_006774.2:p.Met203Val