Canonical Allele Identifier: CA365558963
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1320166
ClinVar RCV Id: RCV001775339
dbSNP Id: rs2114283459
MyVariant Identifiers: chr6:g.121768409T>A (hg19) chr6:g.121447263T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447263T>A , CM000668.2:g.121447263T>A GRCh38
NC_000006.11:g.121768409T>A , CM000668.1:g.121768409T>A GRCh37
NC_000006.10:g.121810108T>A NCBI36
NG_008308.1:g.16665T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.416T>A MANE Select ENSP00000282561.3:p.Ile139Asn
ENST00000647564.1:c.416T>A ENSP00000497565.1:p.Ile139Asn
ENST00000649003.1:c.416T>A ENSP00000497283.1:p.Ile139Asn
ENST00000650427.1:c.416T>A ENSP00000497367.1:p.Ile139Asn
ENST00000282561.3:c.416T>A ENSP00000282561.3:p.Ile139Asn
NM_000165.4:c.416T>A NP_000156.1:p.Ile139Asn
NM_000165.5:c.416T>A MANE Select NP_000156.1:p.Ile139Asn
Search 100 bp 5'
Search 100 bp 3'