Canonical Allele Identifier: CA755028

Linked Data

dbSNP Id: rs764909085
gnomAD v2: 1-35260134-G-A
gnomAD v3: 1-34794533-G-A
gnomAD v4: 1-34794533-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794533G>A , CM000663.2:g.34794533G>A GRCh38
NC_000001.10:g.35260134G>A , CM000663.1:g.35260134G>A GRCh37
NC_000001.9:g.35032721G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.320G>A (GJA4) MANE Select ENSP00000343676.4:p.Arg107Gln
ENST00000342280.4:c.320G>A (GJA4) ENSP00000343676.4:p.Arg107Gln
ENST00000426886.1:c.207+61238C>T (SMIM12) ENSP00000429902.1:n.207+61238C>T
ENST00000450137.1:c.320G>A (GJA4) ENSP00000409186.1:p.Arg107Gln
NM_002060.2:c.320G>A (GJA4) NP_002051.2:p.Arg107Gln
XM_005270750.1:c.320G>A (GJA4) XP_005270807.1:p.Arg107Gln
XR_947179.1:n.1001+3838C>T
XM_005270750.2:c.320G>A (GJA4) XP_005270807.1:p.Arg107Gln
XM_017001043.2:c.320G>A (GJA4) XP_016856532.1:p.Arg107Gln
XR_001737967.1:n.1023+3838C>T
NM_002060.3:c.320G>A (GJA4) MANE Select NP_002051.2:p.Arg107Gln