Canonical Allele Identifier: CA10621311

Gene: GJA1

Linked Data

• ClinVar Variation Id: 355156
• ClinVar RCV Id: RCV000277770 ; RCV000333087 ; RCV000367853
• dbSNP Id: rs539558089
• gnomAD v2: 6-121756860-C-T
• gnomAD v3: 6-121435714-C-T
• gnomAD v4: 6-121435714-C-T
• MyVariant Identifiers: chr6:g.121756860C>T (hg19) ; chr6:g.121435714C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121435714C>T , CM000668.2:g.121435714C>T	GRCh38
NC_000006.11:g.121756860C>T , CM000668.1:g.121756860C>T	GRCh37
NC_000006.10:g.121798559C>T	NCBI36
NG_008308.1:g.5116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-135C>T MANE Select	ENSP00000282561.3:n.-135C>T
ENST00000649003.1:c.-17+54C>T	ENSP00000497283.1:n.-17+54C>T
ENST00000282561.3:c.-135C>T	ENSP00000282561.3:n.-135C>T
NM_000165.4:c.-135C>T	NP_000156.1:n.-135C>T
NM_000165.5:c.-135C>T MANE Select	NP_000156.1:n.-135C>T