Canonical Allele Identifier: CA6903979
Gene: GJA3 HGNC NCBI

Linked Data

ClinVar Variation Id: 311332
ClinVar RCV Id: RCV000363276
dbSNP Id: rs201955819
ExAC: 13:20716194 C / T
gnomAD v2: 13-20716194-C-T
gnomAD v3: 13-20142055-C-T
gnomAD v4: 13-20142055-C-T
COSMIC: COSM4622785
MyVariant Identifiers: chr13:g.20716194C>T (hg19) chr13:g.20142055C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.20142055C>T , CM000675.2:g.20142055C>T GRCh38
NC_000013.10:g.20716194C>T , CM000675.1:g.20716194C>T GRCh37
NC_000013.9:g.19614194C>T NCBI36
NG_016399.1:g.23990G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000241125.4:c.1234G>A MANE Select ENSP00000241125.3:p.Gly412Arg
ENST00000241125.3:c.1234G>A ENSP00000241125.3:p.Gly412Arg
NM_021954.3:c.1234G>A NP_068773.2:p.Gly412Arg
XM_005266353.1:c.1234G>A XP_005266410.1:p.Gly412Arg
XM_011535048.1:c.1234G>A XP_011533350.1:p.Gly412Arg
XM_011535048.2:c.1234G>A XP_011533350.1:p.Gly412Arg
NM_021954.4:c.1234G>A MANE Select NP_068773.2:p.Gly412Arg
Search 100 bp 5'
Search 100 bp 3'