Canonical Allele Identifier: CA1065892
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782492831
ExAC: 1:147380305 A / G
gnomAD v2: 1-147380305-A-G
gnomAD v3: 1-147908178-A-G
gnomAD v4: 1-147908178-A-G
MyVariant Identifiers: chr1:g.147380305A>G (hg19) chr1:g.147908178A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908178A>G , CM000663.2:g.147908178A>G GRCh38
NC_000001.10:g.147380305A>G , CM000663.1:g.147380305A>G GRCh37
NC_000001.9:g.145846929A>G NCBI36
NG_016242.1:g.10360A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.223A>G MANE Select ENSP00000358238.1:p.Ile75Val
ENST00000369235.1:c.223A>G ENSP00000358238.1:p.Ile75Val
NM_005267.4:c.223A>G NP_005258.2:p.Ile75Val
XM_011509416.1:c.223A>G XP_011507718.1:p.Ile75Val
XM_011509417.1:c.223A>G XP_011507719.1:p.Ile75Val
XM_011509417.2:c.223A>G XP_011507719.1:p.Ile75Val
XR_002956281.1:n.1138A>G
NM_005267.5:c.223A>G MANE Select NP_005258.2:p.Ile75Val
Search 100 bp 5'
Search 100 bp 3'