Canonical Allele Identifier: CA755153
Gene: GJA4 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs1764391

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34795168C>T , CM000663.2:g.34795168C>T GRCh38
NC_000001.10:g.35260769C>T , CM000663.1:g.35260769C>T GRCh37
NC_000001.9:g.35033356C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_002060.2:c.955C>T VV NP_002051.2:p.Pro319Ser
XM_005270750.1:c.955C>T XP_005270807.1:p.Pro319Ser
XR_947179.1:n.1001+3203G>A
XM_005270750.2:c.955C>T XP_005270807.1:p.Pro319Ser
XM_017001043.2:c.955C>T XP_016856532.1:p.Pro319Ser
XR_001737967.1:n.1023+3203G>A
NM_002060.3:c.955C>T VV MANE Preferred NP_002051.2:p.Pro319Ser
ENST00000342280.4:c.955C>T ENSP00000343676.4:p.Pro319Ser
ENST00000426886.1:c.207+60603G>A ENSP00000429902.1:p.=