Canonical Allele Identifier: CA342223609
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs1651883882
gnomAD v3: 1-147908184-C-G
gnomAD v4: 1-147908184-C-G
MyVariant Identifiers: chr1:g.147380311C>G (hg19) chr1:g.147908184C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908184C>G , CM000663.2:g.147908184C>G GRCh38
NC_000001.10:g.147380311C>G , CM000663.1:g.147380311C>G GRCh37
NC_000001.9:g.145846935C>G NCBI36
NG_016242.1:g.10366C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.229C>G MANE Select ENSP00000358238.1:p.Leu77Val
ENST00000369235.1:c.229C>G ENSP00000358238.1:p.Leu77Val
NM_005267.4:c.229C>G NP_005258.2:p.Leu77Val
XM_011509416.1:c.229C>G XP_011507718.1:p.Leu77Val
XM_011509417.1:c.229C>G XP_011507719.1:p.Leu77Val
XM_011509417.2:c.229C>G XP_011507719.1:p.Leu77Val
XR_002956281.1:n.1144C>G
NM_005267.5:c.229C>G MANE Select NP_005258.2:p.Leu77Val
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