Canonical Allele Identifier: CA570268876
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs1189869202
gnomAD v2: 6-121767684-C-T
gnomAD v3: 6-121446538-C-T
gnomAD v4: 6-121446538-C-T
MyVariant Identifiers: chr6:g.121767684C>T (hg19) chr6:g.121446538C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121446538C>T , CM000668.2:g.121446538C>T GRCh38
NC_000006.11:g.121767684C>T , CM000668.1:g.121767684C>T GRCh37
NC_000006.10:g.121809383C>T NCBI36
NG_008308.1:g.15940C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.-16-294C>T MANE Select ENSP00000282561.3:n.-16-294C>T
ENST00000647564.1:c.-16-294C>T ENSP00000497565.1:n.-16-294C>T
ENST00000649003.1:c.-16-294C>T ENSP00000497283.1:n.-16-294C>T
ENST00000650427.1:c.-16-294C>T ENSP00000497367.1:n.-16-294C>T
ENST00000282561.3:c.-16-294C>T ENSP00000282561.3:n.-16-294C>T
NM_000165.4:c.-16-294C>T NP_000156.1:n.-16-294C>T
NM_000165.5:c.-16-294C>T MANE Select NP_000156.1:n.-16-294C>T
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