Canonical Allele Identifier: CA342223739
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 650108
ClinVar RCV Id: RCV000805199 RCV003886442
dbSNP Id: rs80358200
MyVariant Identifiers: chr1:g.147380344C>G (hg19) chr1:g.147908217C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908217C>G , CM000663.2:g.147908217C>G GRCh38
NC_000001.10:g.147380344C>G , CM000663.1:g.147380344C>G GRCh37
NC_000001.9:g.145846968C>G NCBI36
NG_016242.1:g.10399C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.262C>G MANE Select ENSP00000358238.1:p.Pro88Ala
ENST00000369235.1:c.262C>G ENSP00000358238.1:p.Pro88Ala
NM_005267.4:c.262C>G NP_005258.2:p.Pro88Ala
XM_011509416.1:c.262C>G XP_011507718.1:p.Pro88Ala
XM_011509417.1:c.262C>G XP_011507719.1:p.Pro88Ala
XM_011509417.2:c.262C>G XP_011507719.1:p.Pro88Ala
XR_002956281.1:n.1177C>G
NM_005267.5:c.262C>G MANE Select NP_005258.2:p.Pro88Ala
Search 100 bp 5'
Search 100 bp 3'