Canonical Allele Identifier: CA146810002

Gene: GJA1

Linked Data

• dbSNP Id: rs1024094120
• gnomAD v3: 6-121446728-C-T
• gnomAD v4: 6-121446728-C-T
• COSMIC: COSN20054418
• MyVariant Identifiers: chr6:g.121767874C>T (hg19) ; chr6:g.121446728C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.121446728C>T , CM000668.2:g.121446728C>T	GRCh38
NC_000006.11:g.121767874C>T , CM000668.1:g.121767874C>T	GRCh37
NC_000006.10:g.121809573C>T	NCBI36
NG_008308.1:g.16130C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000282561.4:c.-16-104C>T MANE Select	ENSP00000282561.3:n.-16-104C>T
ENST00000647564.1:c.-16-104C>T	ENSP00000497565.1:n.-16-104C>T
ENST00000649003.1:c.-16-104C>T	ENSP00000497283.1:n.-16-104C>T
ENST00000650427.1:c.-16-104C>T	ENSP00000497367.1:n.-16-104C>T
ENST00000282561.3:c.-16-104C>T	ENSP00000282561.3:n.-16-104C>T
NM_000165.4:c.-16-104C>T	NP_000156.1:n.-16-104C>T
NM_000165.5:c.-16-104C>T MANE Select	NP_000156.1:n.-16-104C>T