Canonical Allele Identifier: CA10622871
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 355178
ClinVar RCV Id: RCV000278385 RCV000335976 RCV000397040
dbSNP Id: rs397698276
gnomAD v2: 6-121769905-AT-A
gnomAD v3: 6-121448759-AT-A
gnomAD v4: 6-121448759-AT-A
MyVariant Identifiers: chr6:g.121769915del (hg19) chr6:g.121769906del (hg19) chr6:g.121448769del (hg38) chr6:g.121448760del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121448769del , CM000668.2:g.121448769del GRCh38
NC_000006.11:g.121769915del , CM000668.1:g.121769915del GRCh37
NC_000006.10:g.121811614del NCBI36
NG_008308.1:g.18171del

Transcript Alleles

HGVS Amino-acid change
ENST00000282561.4:c.*773del MANE Select ENSP00000282561.3:n.*773del
ENST00000647564.1:c.*773del ENSP00000497565.1:n.*773del
ENST00000649003.1:c.*773del ENSP00000497283.1:n.*773del
ENST00000650427.1:c.*773del ENSP00000497367.1:n.*773del
ENST00000282561.3:c.*773del ENSP00000282561.3:n.*773del
NM_000165.4:c.*773del NP_000156.1:n.*773del
NM_000165.5:c.*773del MANE Select NP_000156.1:n.*773del
Search 100 bp 5'
Search 100 bp 3'