Canonical Allele Identifier: CA1065859
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs781934542
ExAC: 1:147380143 A / G
gnomAD v4: 1-147908016-A-G
MyVariant Identifiers: chr1:g.147380143A>G (hg19) chr1:g.147908016A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908016A>G , CM000663.2:g.147908016A>G GRCh38
NC_000001.10:g.147380143A>G , CM000663.1:g.147380143A>G GRCh37
NC_000001.9:g.145846767A>G NCBI36
NG_016242.1:g.10198A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.61A>G MANE Select ENSP00000358238.1:p.Ile21Val
ENST00000369235.1:c.61A>G ENSP00000358238.1:p.Ile21Val
NM_005267.4:c.61A>G NP_005258.2:p.Ile21Val
XM_011509416.1:c.61A>G XP_011507718.1:p.Ile21Val
XM_011509417.1:c.61A>G XP_011507719.1:p.Ile21Val
XM_011509417.2:c.61A>G XP_011507719.1:p.Ile21Val
XR_002956281.1:n.976A>G
NM_005267.5:c.61A>G MANE Select NP_005258.2:p.Ile21Val
Search 100 bp 5'
Search 100 bp 3'