Canonical Allele Identifier: CA10633947
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311299
ClinVar RCV Id: RCV000277333
dbSNP Id: rs138134157
gnomAD v2: 13-20713704-T-C
gnomAD v3: 13-20139565-T-C
gnomAD v4: 13-20139565-T-C
MyVariant Identifiers: chr13:g.20713704T>C (hg19) chr13:g.20139565T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20139565T>C , CM000675.2:g.20139565T>C GRCh38
NC_000013.10:g.20713704T>C , CM000675.1:g.20713704T>C GRCh37
NC_000013.9:g.19611704T>C NCBI36
NG_016399.1:g.26480A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*2416A>G MANE Select ENSP00000241125.3:n.*2416A>G
ENST00000241125.3:c.*2416A>G ENSP00000241125.3:n.*2416A>G
NM_021954.3:c.*2416A>G NP_068773.2:n.*2416A>G
XM_005266353.1:c.*2416A>G XP_005266410.1:n.*2416A>G
XM_011535048.1:c.*2416A>G XP_011533350.1:n.*2416A>G
XM_011535048.2:c.*2416A>G XP_011533350.1:n.*2416A>G
NM_021954.4:c.*2416A>G MANE Select NP_068773.2:n.*2416A>G
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