Canonical Allele Identifier: CA1065944
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782014995
ExAC: 1:147380503 T / C
gnomAD v2: 1-147380503-T-C
gnomAD v4: 1-147908376-T-C
MyVariant Identifiers: chr1:g.147380503T>C (hg19) chr1:g.147908376T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908376T>C , CM000663.2:g.147908376T>C GRCh38
NC_000001.10:g.147380503T>C , CM000663.1:g.147380503T>C GRCh37
NC_000001.9:g.145847127T>C NCBI36
NG_016242.1:g.10558T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.421T>C MANE Select ENSP00000358238.1:p.Phe141Leu
ENST00000369235.1:c.421T>C ENSP00000358238.1:p.Phe141Leu
NM_005267.4:c.421T>C NP_005258.2:p.Phe141Leu
XM_011509416.1:c.421T>C XP_011507718.1:p.Phe141Leu
XM_011509417.1:c.421T>C XP_011507719.1:p.Phe141Leu
XM_011509417.2:c.421T>C XP_011507719.1:p.Phe141Leu
XR_002956281.1:n.1336T>C
NM_005267.5:c.421T>C MANE Select NP_005258.2:p.Phe141Leu
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