Canonical Allele Identifier: CA10642942
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311309
ClinVar RCV Id: RCV000335497
dbSNP Id: rs575890873
gnomAD v2: 13-20714881-G-C
gnomAD v3: 13-20140742-G-C
gnomAD v4: 13-20140742-G-C
MyVariant Identifiers: chr13:g.20714881G>C (hg19) chr13:g.20140742G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20140742G>C , CM000675.2:g.20140742G>C GRCh38
NC_000013.10:g.20714881G>C , CM000675.1:g.20714881G>C GRCh37
NC_000013.9:g.19612881G>C NCBI36
NG_016399.1:g.25303C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.*1239C>G MANE Select ENSP00000241125.3:n.*1239C>G
ENST00000241125.3:c.*1239C>G ENSP00000241125.3:n.*1239C>G
NM_021954.3:c.*1239C>G NP_068773.2:n.*1239C>G
XM_005266353.1:c.*1239C>G XP_005266410.1:n.*1239C>G
XM_011535048.1:c.*1239C>G XP_011533350.1:n.*1239C>G
XM_011535048.2:c.*1239C>G XP_011533350.1:n.*1239C>G
NM_021954.4:c.*1239C>G MANE Select NP_068773.2:n.*1239C>G
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