Canonical Allele Identifier: CA420607027
Gene: GJA8 HGNC NCBI

Linked Data

gnomAD v4: 1-147908379-C-A
MyVariant Identifiers: chr1:g.147380506C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908379C>A , CM000663.2:g.147908379C>A GRCh38
NC_000001.10:g.147380506C>A , CM000663.1:g.147380506C>A GRCh37
NC_000001.9:g.145847130C>A NCBI36
NG_016242.1:g.10561C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.424C>A MANE Select ENSP00000358238.1:p.Arg142=
ENST00000369235.1:c.424C>A ENSP00000358238.1:p.Arg142=
NM_005267.4:c.424C>A NP_005258.2:p.Arg142=
XM_011509416.1:c.424C>A XP_011507718.1:p.Arg142=
XM_011509417.1:c.424C>A XP_011507719.1:p.Arg142=
XM_011509417.2:c.424C>A XP_011507719.1:p.Arg142=
XR_002956281.1:n.1339C>A
NM_005267.5:c.424C>A MANE Select NP_005258.2:p.Arg142=
Search 100 bp 5'
Search 100 bp 3'