Canonical Allele Identifier: CA420606851
Gene: GJA8 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.147380322G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908195G>C , CM000663.2:g.147908195G>C GRCh38
NC_000001.10:g.147380322G>C , CM000663.1:g.147380322G>C GRCh37
NC_000001.9:g.145846946G>C NCBI36
NG_016242.1:g.10377G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.240G>C MANE Select ENSP00000358238.1:p.Leu80=
ENST00000369235.1:c.240G>C ENSP00000358238.1:p.Leu80=
NM_005267.4:c.240G>C NP_005258.2:p.Leu80=
XM_011509416.1:c.240G>C XP_011507718.1:p.Leu80=
XM_011509417.1:c.240G>C XP_011507719.1:p.Leu80=
XM_011509417.2:c.240G>C XP_011507719.1:p.Leu80=
XR_002956281.1:n.1155G>C
NM_005267.5:c.240G>C MANE Select NP_005258.2:p.Leu80=