Canonical Allele Identifier: CA420607072

Gene: GJA8

Linked Data

• MyVariant Identifiers: chr1:g.147380524C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147908397C>T , CM000663.2:g.147908397C>T	GRCh38
NC_000001.10:g.147380524C>T , CM000663.1:g.147380524C>T	GRCh37
NC_000001.9:g.145847148C>T	NCBI36
NG_016242.1:g.10579C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.442C>T MANE Select	ENSP00000358238.1:p.Leu148=
ENST00000369235.1:c.442C>T	ENSP00000358238.1:p.Leu148=
NM_005267.4:c.442C>T	NP_005258.2:p.Leu148=
XM_011509416.1:c.442C>T	XP_011507718.1:p.Leu148=
XM_011509417.1:c.442C>T	XP_011507719.1:p.Leu148=
XM_011509417.2:c.442C>T	XP_011507719.1:p.Leu148=
XR_002956281.1:n.1357C>T
NM_005267.5:c.442C>T MANE Select	NP_005258.2:p.Leu148=