Canonical Allele Identifier: CA10642957

Gene: GJA3

Linked Data

• ClinVar Variation Id: 311320
• ClinVar RCV Id: RCV000322021
• dbSNP Id: rs61950897
• gnomAD v2: 13-20715539-T-C
• gnomAD v3: 13-20141400-T-C
• gnomAD v4: 13-20141400-T-C
• MyVariant Identifiers: chr13:g.20715539T>C (hg19) ; chr13:g.20141400T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.20141400T>C , CM000675.2:g.20141400T>C	GRCh38
NC_000013.10:g.20715539T>C , CM000675.1:g.20715539T>C	GRCh37
NC_000013.9:g.19613539T>C	NCBI36
NG_016399.1:g.24645A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000241125.4:c.*581A>G MANE Select	ENSP00000241125.3:n.*581A>G
ENST00000241125.3:c.*581A>G	ENSP00000241125.3:n.*581A>G
NM_021954.3:c.*581A>G	NP_068773.2:n.*581A>G
XM_005266353.1:c.*581A>G	XP_005266410.1:n.*581A>G
XM_011535048.1:c.*581A>G	XP_011533350.1:n.*581A>G
XM_011535048.2:c.*581A>G	XP_011533350.1:n.*581A>G
NM_021954.4:c.*581A>G MANE Select	NP_068773.2:n.*581A>G