Canonical Allele Identifier: CA342224477

Gene: GJA8

Linked Data

• dbSNP Id: rs1553242697
• gnomAD v2: 1-147380529-G-C
• gnomAD v4: 1-147908402-G-C
• MyVariant Identifiers: chr1:g.147380529G>C (hg19) ; chr1:g.147908402G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908402G>C , CM000663.2:g.147908402G>C	GRCh38
NC_000001.10:g.147380529G>C , CM000663.1:g.147380529G>C	GRCh37
NC_000001.9:g.145847153G>C	NCBI36
NG_016242.1:g.10584G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.447G>C MANE Select	ENSP00000358238.1:p.Arg149Ser
ENST00000369235.1:c.447G>C	ENSP00000358238.1:p.Arg149Ser
NM_005267.4:c.447G>C	NP_005258.2:p.Arg149Ser
XM_011509416.1:c.447G>C	XP_011507718.1:p.Arg149Ser
XM_011509417.1:c.447G>C	XP_011507719.1:p.Arg149Ser
XM_011509417.2:c.447G>C	XP_011507719.1:p.Arg149Ser
XR_002956281.1:n.1362G>C
NM_005267.5:c.447G>C MANE Select	NP_005258.2:p.Arg149Ser