Canonical Allele Identifier: CA755022

Linked Data

dbSNP Id: rs761133887
gnomAD v2: 1-35260127-C-T
gnomAD v3: 1-34794526-C-T
gnomAD v4: 1-34794526-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794526C>T , CM000663.2:g.34794526C>T GRCh38
NC_000001.10:g.35260127C>T , CM000663.1:g.35260127C>T GRCh37
NC_000001.9:g.35032714C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.313C>T (GJA4) MANE Select ENSP00000343676.4:p.Arg105Trp
ENST00000342280.4:c.313C>T (GJA4) ENSP00000343676.4:p.Arg105Trp
ENST00000426886.1:c.207+61245G>A (SMIM12) ENSP00000429902.1:n.207+61245G>A
ENST00000450137.1:c.313C>T (GJA4) ENSP00000409186.1:p.Arg105Trp
NM_002060.2:c.313C>T (GJA4) NP_002051.2:p.Arg105Trp
XM_005270750.1:c.313C>T (GJA4) XP_005270807.1:p.Arg105Trp
XR_947179.1:n.1001+3845G>A
XM_005270750.2:c.313C>T (GJA4) XP_005270807.1:p.Arg105Trp
XM_017001043.2:c.313C>T (GJA4) XP_016856532.1:p.Arg105Trp
XR_001737967.1:n.1023+3845G>A
NM_002060.3:c.313C>T (GJA4) MANE Select NP_002051.2:p.Arg105Trp