Canonical Allele Identifier: CA1065895
Gene: GJA8 HGNC NCBI

Linked Data

dbSNP Id: rs782424475
ExAC: 1:147380332 T / A
gnomAD v2: 1-147380332-T-A
gnomAD v3: 1-147908205-T-A
gnomAD v4: 1-147908205-T-A
MyVariant Identifiers: chr1:g.147380332T>A (hg19) chr1:g.147908205T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908205T>A , CM000663.2:g.147908205T>A GRCh38
NC_000001.10:g.147380332T>A , CM000663.1:g.147380332T>A GRCh37
NC_000001.9:g.145846956T>A NCBI36
NG_016242.1:g.10387T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.250T>A MANE Select ENSP00000358238.1:p.Phe84Ile
ENST00000369235.1:c.250T>A ENSP00000358238.1:p.Phe84Ile
NM_005267.4:c.250T>A NP_005258.2:p.Phe84Ile
XM_011509416.1:c.250T>A XP_011507718.1:p.Phe84Ile
XM_011509417.1:c.250T>A XP_011507719.1:p.Phe84Ile
XM_011509417.2:c.250T>A XP_011507719.1:p.Phe84Ile
XR_002956281.1:n.1165T>A
NM_005267.5:c.250T>A MANE Select NP_005258.2:p.Phe84Ile
Search 100 bp 5'
Search 100 bp 3'