Canonical Allele Identifier: CA339321591

Linked Data

dbSNP Id: rs1640242466
gnomAD v3: 1-34794380-C-T
gnomAD v4: 1-34794380-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794380C>T , CM000663.2:g.34794380C>T GRCh38
NC_000001.10:g.35259981C>T , CM000663.1:g.35259981C>T GRCh37
NC_000001.9:g.35032568C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.167C>T (GJA4) MANE Select ENSP00000343676.4:p.Thr56Met
ENST00000342280.4:c.167C>T (GJA4) ENSP00000343676.4:p.Thr56Met
ENST00000426886.1:c.207+61391G>A (SMIM12) ENSP00000429902.1:n.207+61391G>A
ENST00000450137.1:c.167C>T (GJA4) ENSP00000409186.1:p.Thr56Met
NM_002060.2:c.167C>T (GJA4) NP_002051.2:p.Thr56Met
XM_005270750.1:c.167C>T (GJA4) XP_005270807.1:p.Thr56Met
XR_947179.1:n.1001+3991G>A
XM_005270750.2:c.167C>T (GJA4) XP_005270807.1:p.Thr56Met
XM_017001043.2:c.167C>T (GJA4) XP_016856532.1:p.Thr56Met
XR_001737967.1:n.1023+3991G>A
NM_002060.3:c.167C>T (GJA4) MANE Select NP_002051.2:p.Thr56Met