Canonical Allele Identifier: CA342224455

Gene: GJA8

Linked Data

• dbSNP Id: rs1571176551
• gnomAD v3: 1-147908391-A-G
• gnomAD v4: 1-147908391-A-G
• MyVariant Identifiers: chr1:g.147380518A>G (hg19) ; chr1:g.147908391A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908391A>G , CM000663.2:g.147908391A>G	GRCh38
NC_000001.10:g.147380518A>G , CM000663.1:g.147380518A>G	GRCh37
NC_000001.9:g.145847142A>G	NCBI36
NG_016242.1:g.10573A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.436A>G MANE Select	ENSP00000358238.1:p.Thr146Ala
ENST00000369235.1:c.436A>G	ENSP00000358238.1:p.Thr146Ala
NM_005267.4:c.436A>G	NP_005258.2:p.Thr146Ala
XM_011509416.1:c.436A>G	XP_011507718.1:p.Thr146Ala
XM_011509417.1:c.436A>G	XP_011507719.1:p.Thr146Ala
XM_011509417.2:c.436A>G	XP_011507719.1:p.Thr146Ala
XR_002956281.1:n.1351A>G
NM_005267.5:c.436A>G MANE Select	NP_005258.2:p.Thr146Ala