Canonical Allele Identifier: CA342223492
Gene: GJA8 HGNC NCBI

Linked Data

ClinVar Variation Id: 850845
ClinVar RCV Id: RCV001055109
dbSNP Id: rs1651881222
MyVariant Identifiers: chr1:g.147380279A>C (hg19) chr1:g.147908152A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.147908152A>C , CM000663.2:g.147908152A>C GRCh38
NC_000001.10:g.147380279A>C , CM000663.1:g.147380279A>C GRCh37
NC_000001.9:g.145846903A>C NCBI36
NG_016242.1:g.10334A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369235.2:c.197A>C MANE Select ENSP00000358238.1:p.Tyr66Ser
ENST00000369235.1:c.197A>C ENSP00000358238.1:p.Tyr66Ser
NM_005267.4:c.197A>C NP_005258.2:p.Tyr66Ser
XM_011509416.1:c.197A>C XP_011507718.1:p.Tyr66Ser
XM_011509417.1:c.197A>C XP_011507719.1:p.Tyr66Ser
XM_011509417.2:c.197A>C XP_011507719.1:p.Tyr66Ser
XR_002956281.1:n.1112A>C
NM_005267.5:c.197A>C MANE Select NP_005258.2:p.Tyr66Ser
Search 100 bp 5'
Search 100 bp 3'