Canonical Allele Identifier: CA339321174

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794358C>T , CM000663.2:g.34794358C>T GRCh38
NC_000001.10:g.35259959C>T , CM000663.1:g.35259959C>T GRCh37
NC_000001.9:g.35032546C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.145C>T (GJA4) MANE Select ENSP00000343676.4:p.Gln49Ter
ENST00000342280.4:c.145C>T (GJA4) ENSP00000343676.4:p.Gln49Ter
ENST00000426886.1:c.207+61413G>A (SMIM12) ENSP00000429902.1:n.207+61413G>A
ENST00000450137.1:c.145C>T (GJA4) ENSP00000409186.1:p.Gln49Ter
NM_002060.2:c.145C>T (GJA4) NP_002051.2:p.Gln49Ter
XM_005270750.1:c.145C>T (GJA4) XP_005270807.1:p.Gln49Ter
XR_947179.1:n.1001+4013G>A
XM_005270750.2:c.145C>T (GJA4) XP_005270807.1:p.Gln49Ter
XM_017001043.2:c.145C>T (GJA4) XP_016856532.1:p.Gln49Ter
XR_001737967.1:n.1023+4013G>A
NM_002060.3:c.145C>T (GJA4) MANE Select NP_002051.2:p.Gln49Ter