Canonical Allele Identifier: CA342223657
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1490588
ClinVar RCV Id: RCV001983814
dbSNP Id: rs2149015529
gnomAD v4: 1-147908197-A-G
MyVariant Identifiers: chr1:g.147380324A>G (hg19) chr1:g.147908197A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908197A>G , CM000663.2:g.147908197A>G GRCh38
NC_000001.10:g.147380324A>G , CM000663.1:g.147380324A>G GRCh37
NC_000001.9:g.145846948A>G NCBI36
NG_016242.1:g.10379A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.242A>G MANE Select ENSP00000358238.1:p.Gln81Arg
ENST00000369235.1:c.242A>G ENSP00000358238.1:p.Gln81Arg
NM_005267.4:c.242A>G NP_005258.2:p.Gln81Arg
XM_011509416.1:c.242A>G XP_011507718.1:p.Gln81Arg
XM_011509417.1:c.242A>G XP_011507719.1:p.Gln81Arg
XM_011509417.2:c.242A>G XP_011507719.1:p.Gln81Arg
XR_002956281.1:n.1157A>G
NM_005267.5:c.242A>G MANE Select NP_005258.2:p.Gln81Arg
Search 100 bp 5'
Search 100 bp 3'