Canonical Allele Identifier: CA342223132
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs1280760883
gnomAD v3: 1-147908058-C-T
gnomAD v4: 1-147908058-C-T
MyVariant Identifiers: chr1:g.147380185C>T (hg19) chr1:g.147908058C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908058C>T , CM000663.2:g.147908058C>T GRCh38
NC_000001.10:g.147380185C>T , CM000663.1:g.147380185C>T GRCh37
NC_000001.9:g.145846809C>T NCBI36
NG_016242.1:g.10240C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.103C>T MANE Select ENSP00000358238.1:p.Leu35Phe
ENST00000369235.1:c.103C>T ENSP00000358238.1:p.Leu35Phe
NM_005267.4:c.103C>T NP_005258.2:p.Leu35Phe
XM_011509416.1:c.103C>T XP_011507718.1:p.Leu35Phe
XM_011509417.1:c.103C>T XP_011507719.1:p.Leu35Phe
XM_011509417.2:c.103C>T XP_011507719.1:p.Leu35Phe
XR_002956281.1:n.1018C>T
NM_005267.5:c.103C>T MANE Select NP_005258.2:p.Leu35Phe
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