Canonical Allele Identifier: CA365558412
Gene: GJA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1693033
ClinVar RCV Id: RCV002259460 RCV003095862
dbSNP Id: rs1773901515
gnomAD v4: 6-121447099-T-A
MyVariant Identifiers: chr6:g.121768245T>A (hg19) chr6:g.121447099T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447099T>A , CM000668.2:g.121447099T>A GRCh38
NC_000006.11:g.121768245T>A , CM000668.1:g.121768245T>A GRCh37
NC_000006.10:g.121809944T>A NCBI36
NG_008308.1:g.16501T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.252T>A MANE Select ENSP00000282561.3:p.Phe84Leu
ENST00000647564.1:c.252T>A ENSP00000497565.1:p.Phe84Leu
ENST00000649003.1:c.252T>A ENSP00000497283.1:p.Phe84Leu
ENST00000650427.1:c.252T>A ENSP00000497367.1:p.Phe84Leu
ENST00000282561.3:c.252T>A ENSP00000282561.3:p.Phe84Leu
NM_000165.4:c.252T>A NP_000156.1:p.Phe84Leu
NM_000165.5:c.252T>A MANE Select NP_000156.1:p.Phe84Leu
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