Canonical Allele Identifier: CA342224570
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316537
ClinVar RCV Id: RCV001774909
dbSNP Id: rs2149015796
MyVariant Identifiers: chr1:g.147380553C>G (hg19) chr1:g.147908426C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908426C>G , CM000663.2:g.147908426C>G GRCh38
NC_000001.10:g.147380553C>G , CM000663.1:g.147380553C>G GRCh37
NC_000001.9:g.145847177C>G NCBI36
NG_016242.1:g.10608C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.471C>G MANE Select ENSP00000358238.1:p.Phe157Leu
ENST00000369235.1:c.471C>G ENSP00000358238.1:p.Phe157Leu
NM_005267.4:c.471C>G NP_005258.2:p.Phe157Leu
XM_011509416.1:c.471C>G XP_011507718.1:p.Phe157Leu
XM_011509417.1:c.471C>G XP_011507719.1:p.Phe157Leu
XM_011509417.2:c.471C>G XP_011507719.1:p.Phe157Leu
XR_002956281.1:n.1386C>G
NM_005267.5:c.471C>G MANE Select NP_005258.2:p.Phe157Leu
Search 100 bp 5'
Search 100 bp 3'