Canonical Allele Identifier: CA1199652698
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs1651887020
gnomAD v4: 1-147908231-C-CG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908232dup , CM000663.2:g.147908232dup GRCh38
NC_000001.10:g.147380359dup , CM000663.1:g.147380359dup GRCh37
NC_000001.9:g.145846983dup NCBI36
NG_016242.1:g.10414dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.277dup MANE Select ENSP00000358238.1:p.Val93GlyfsTer29
ENST00000369235.1:c.277dup ENSP00000358238.1:p.Val93GlyfsTer29
NM_005267.4:c.277dup NP_005258.2:p.Val93GlyfsTer29
XM_011509416.1:c.277dup XP_011507718.1:p.Val93GlyfsTer29
XM_011509417.1:c.277dup XP_011507719.1:p.Val93GlyfsTer29
XM_011509417.2:c.277dup XP_011507719.1:p.Val93GlyfsTer29
XR_002956281.1:n.1192dup
NM_005267.5:c.277dup MANE Select NP_005258.2:p.Val93GlyfsTer29
Search 100 bp 5'
Search 100 bp 3'