Canonical Allele Identifier: CA342223083

Gene: GJA8

Linked Data

• MyVariant Identifiers: chr1:g.147380173A>G (hg19) ; chr1:g.147908046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908046A>G , CM000663.2:g.147908046A>G	GRCh38
NC_000001.10:g.147380173A>G , CM000663.1:g.147380173A>G	GRCh37
NC_000001.9:g.145846797A>G	NCBI36
NG_016242.1:g.10228A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.91A>G MANE Select	ENSP00000358238.1:p.Ile31Val
ENST00000369235.1:c.91A>G	ENSP00000358238.1:p.Ile31Val
NM_005267.4:c.91A>G	NP_005258.2:p.Ile31Val
XM_011509416.1:c.91A>G	XP_011507718.1:p.Ile31Val
XM_011509417.1:c.91A>G	XP_011507719.1:p.Ile31Val
XM_011509417.2:c.91A>G	XP_011507719.1:p.Ile31Val
XR_002956281.1:n.1006A>G
NM_005267.5:c.91A>G MANE Select	NP_005258.2:p.Ile31Val