Canonical Allele Identifier: CA1066130

Gene: GJA8

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.147909203G>T , CM000663.2:g.147909203G>T	GRCh38
NC_000001.10:g.147381330G>T , CM000663.1:g.147381330G>T	GRCh37
NC_000001.9:g.145847954G>T	NCBI36
NG_016242.1:g.11385G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369235.2:c.1248G>T MANE Select	ENSP00000358238.1:p.Leu416=
ENST00000369235.1:c.1248G>T	ENSP00000358238.1:p.Leu416=
NM_005267.4:c.1248G>T	NP_005258.2:p.Leu416=
XM_011509416.1:c.1248G>T	XP_011507718.1:p.Leu416=
XM_011509417.1:c.1248G>T	XP_011507719.1:p.Leu416=
XR_922072.1:n.1317-444C>A
XR_922073.1:n.981-444C>A
XR_922074.1:n.2051-444C>A
XR_922075.1:n.938-444C>A
XR_922076.1:n.532-444C>A
XM_011509417.2:c.1248G>T	XP_011507719.1:p.Leu416=
XR_001737732.2:n.2378-444C>A
XR_001737733.2:n.2335-444C>A
XR_001737734.2:n.1929-444C>A
XR_002956281.1:n.2163G>T
XR_922072.2:n.1324-444C>A
XR_922074.3:n.2714-444C>A
NM_005267.5:c.1248G>T MANE Select	NP_005258.2:p.Leu416=