Canonical Allele Identifier: CA1065911
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 2639124
ClinVar RCV Id: RCV003408818
dbSNP Id: rs782623142
ExAC: 1:147380403 A / C
gnomAD v2: 1-147380403-A-C
gnomAD v3: 1-147908276-A-C
gnomAD v4: 1-147908276-A-C
MyVariant Identifiers: chr1:g.147380403A>C (hg19) chr1:g.147908276A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908276A>C , CM000663.2:g.147908276A>C GRCh38
NC_000001.10:g.147380403A>C , CM000663.1:g.147380403A>C GRCh37
NC_000001.9:g.145847027A>C NCBI36
NG_016242.1:g.10458A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.321A>C MANE Select ENSP00000358238.1:p.Lys107Asn
ENST00000369235.1:c.321A>C ENSP00000358238.1:p.Lys107Asn
NM_005267.4:c.321A>C NP_005258.2:p.Lys107Asn
XM_011509416.1:c.321A>C XP_011507718.1:p.Lys107Asn
XM_011509417.1:c.321A>C XP_011507719.1:p.Lys107Asn
XM_011509417.2:c.321A>C XP_011507719.1:p.Lys107Asn
XR_002956281.1:n.1236A>C
NM_005267.5:c.321A>C MANE Select NP_005258.2:p.Lys107Asn
Search 100 bp 5'
Search 100 bp 3'