Canonical Allele Identifier: CA755015

Linked Data

dbSNP Id: rs777931705
gnomAD v2: 1-35260085-G-T
gnomAD v3: 1-34794484-G-T
gnomAD v4: 1-34794484-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.34794484G>T , CM000663.2:g.34794484G>T GRCh38
NC_000001.10:g.35260085G>T , CM000663.1:g.35260085G>T GRCh37
NC_000001.9:g.35032672G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000342280.5:c.271G>T (GJA4) MANE Select ENSP00000343676.4:p.Val91Phe
ENST00000342280.4:c.271G>T (GJA4) ENSP00000343676.4:p.Val91Phe
ENST00000426886.1:c.207+61287C>A (SMIM12) ENSP00000429902.1:n.207+61287C>A
ENST00000450137.1:c.271G>T (GJA4) ENSP00000409186.1:p.Val91Phe
NM_002060.2:c.271G>T (GJA4) NP_002051.2:p.Val91Phe
XM_005270750.1:c.271G>T (GJA4) XP_005270807.1:p.Val91Phe
XR_947179.1:n.1001+3887C>A
XM_005270750.2:c.271G>T (GJA4) XP_005270807.1:p.Val91Phe
XM_017001043.2:c.271G>T (GJA4) XP_016856532.1:p.Val91Phe
XR_001737967.1:n.1023+3887C>A
NM_002060.3:c.271G>T (GJA4) MANE Select NP_002051.2:p.Val91Phe