Canonical Allele Identifier: CA6903973
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311331
ClinVar RCV Id: RCV000313370 RCV002285309
dbSNP Id: rs75630774
ExAC: 13:20716073 T / C
gnomAD v2: 13-20716073-T-C
gnomAD v3: 13-20141934-T-C
gnomAD v4: 13-20141934-T-C
MyVariant Identifiers: chr13:g.20716073T>C (hg19) chr13:g.20141934T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20141934T>C , CM000675.2:g.20141934T>C GRCh38
NC_000013.10:g.20716073T>C , CM000675.1:g.20716073T>C GRCh37
NC_000013.9:g.19614073T>C NCBI36
NG_016399.1:g.24111A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*47A>G MANE Select ENSP00000241125.3:n.*47A>G
ENST00000241125.3:c.*47A>G ENSP00000241125.3:n.*47A>G
NM_021954.3:c.*47A>G NP_068773.2:n.*47A>G
XM_005266353.1:c.*47A>G XP_005266410.1:n.*47A>G
XM_011535048.1:c.*47A>G XP_011533350.1:n.*47A>G
XM_011535048.2:c.*47A>G XP_011533350.1:n.*47A>G
NM_021954.4:c.*47A>G MANE Select NP_068773.2:n.*47A>G
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