Canonical Allele Identifier: CA10643008

Gene: GJB6

Linked Data

• ClinVar Variation Id: 311397
• ClinVar RCV Id: RCV000368752
• dbSNP Id: rs573703525
• gnomAD v3: 13-20231085-C-T
• gnomAD v4: 13-20231085-C-T
• MyVariant Identifiers: chr13:g.20805224C>T (hg19) ; chr13:g.20231085C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20231085C>T , CM000675.2:g.20231085C>T	GRCh38
NC_000013.10:g.20805224C>T , CM000675.1:g.20805224C>T	GRCh37
NC_000013.9:g.19703224C>T	NCBI36
NG_008323.1:g.6311G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000241124.11:c.-405G>A	ENSP00000241124.6:n.-405G>A
ENST00000400066.8:c.-186+297G>A	ENSP00000382939.3:n.-186+297G>A
ENST00000643121.1:c.-381-24G>A	ENSP00000494468.1:n.-381-24G>A
ENST00000643211.1:c.-301-272G>A	ENSP00000495841.1:n.-301-272G>A
ENST00000644236.1:c.-257-272G>A	ENSP00000494122.1:n.-257-272G>A
ENST00000644283.1:c.-186+297G>A	ENSP00000495320.1:n.-186+297G>A
ENST00000647029.1:c.-295-278G>A MANE Select	ENSP00000493834.1:n.-295-278G>A
ENST00000647243.1:c.-295-278G>A	ENSP00000494733.1:n.-295-278G>A
ENST00000356192.6:c.-295-278G>A	ENSP00000348521.6:n.-295-278G>A
ENST00000400065.7:c.-186+1109G>A	ENSP00000382938.3:n.-186+1109G>A
ENST00000400066.7:c.-186+297G>A	ENSP00000382939.3:n.-186+297G>A
NM_001110219.2:c.-295-278G>A	NP_001103689.1:n.-295-278G>A
NM_001110220.2:c.-186+297G>A	NP_001103690.1:n.-186+297G>A
NM_001110221.2:c.-186+1109G>A	NP_001103691.1:n.-186+1109G>A
NM_006783.4:c.-405G>A	NP_006774.2:n.-405G>A
NM_001110219.3:c.-295-278G>A MANE Select	NP_001103689.1:n.-295-278G>A
NM_001370090.1:c.-301-272G>A	NP_001357019.1:n.-301-272G>A
NM_001370091.1:c.-186+297G>A	NP_001357020.1:n.-186+297G>A
NM_001370092.1:c.-295-278G>A	NP_001357021.1:n.-295-278G>A
NM_001110220.3:c.-186+297G>A	NP_001103690.1:n.-186+297G>A
NM_001110221.3:c.-186+1109G>A	NP_001103691.1:n.-186+1109G>A