Canonical Allele Identifier: CA339323312
Gene: GJA4 HGNC NCBI
SMIM12 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.35260107A>C (hg19) chr1:g.34794506A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794506A>C , CM000663.2:g.34794506A>C GRCh38
NC_000001.10:g.35260107A>C , CM000663.1:g.35260107A>C GRCh37
NC_000001.9:g.35032694A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.293A>C (GJA4) MANE Select ENSP00000343676.4:p.Tyr98Ser
ENST00000342280.4:c.293A>C (GJA4) ENSP00000343676.4:p.Tyr98Ser
ENST00000426886.1:c.207+61265T>G (SMIM12) ENSP00000429902.1:n.207+61265T>G
ENST00000450137.1:c.293A>C (GJA4) ENSP00000409186.1:p.Tyr98Ser
NM_002060.2:c.293A>C (GJA4) NP_002051.2:p.Tyr98Ser
XM_005270750.1:c.293A>C (GJA4) XP_005270807.1:p.Tyr98Ser
XR_947179.1:n.1001+3865T>G
XM_005270750.2:c.293A>C (GJA4) XP_005270807.1:p.Tyr98Ser
XM_017001043.2:c.293A>C (GJA4) XP_016856532.1:p.Tyr98Ser
XR_001737967.1:n.1023+3865T>G
NM_002060.3:c.293A>C (GJA4) MANE Select NP_002051.2:p.Tyr98Ser
Search 100 bp 5'
Search 100 bp 3'