Canonical Allele Identifier: CA365559238

Gene: GJA1

Linked Data

• ClinVar Variation Id: 3010285
• ClinVar RCV Id: RCV003867460
• MyVariant Identifiers: chr6:g.121768532G>T (hg19) ; chr6:g.121447386G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121447386G>T , CM000668.2:g.121447386G>T	GRCh38
NC_000006.11:g.121768532G>T , CM000668.1:g.121768532G>T	GRCh37
NC_000006.10:g.121810231G>T	NCBI36
NG_008308.1:g.16788G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.539G>T MANE Select	ENSP00000282561.3:p.Ser180Ile
ENST00000647564.1:c.539G>T	ENSP00000497565.1:p.Ser180Ile
ENST00000649003.1:c.539G>T	ENSP00000497283.1:p.Ser180Ile
ENST00000650427.1:c.539G>T	ENSP00000497367.1:p.Ser180Ile
ENST00000282561.3:c.539G>T	ENSP00000282561.3:p.Ser180Ile
NM_000165.4:c.539G>T	NP_000156.1:p.Ser180Ile
NM_000165.5:c.539G>T MANE Select	NP_000156.1:p.Ser180Ile