Canonical Allele Identifier: CA3981700
Gene: GJA1 HGNC NCBI

Linked Data

dbSNP Id: rs370071579
ExAC: 6:121768520 T / C
gnomAD v2: 6-121768520-T-C
gnomAD v4: 6-121447374-T-C
MyVariant Identifiers: chr6:g.121768520T>C (hg19) chr6:g.121447374T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.121447374T>C , CM000668.2:g.121447374T>C GRCh38
NC_000006.11:g.121768520T>C , CM000668.1:g.121768520T>C GRCh37
NC_000006.10:g.121810219T>C NCBI36
NG_008308.1:g.16776T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000282561.4:c.527T>C MANE Select ENSP00000282561.3:p.Ile176Thr
ENST00000647564.1:c.527T>C ENSP00000497565.1:p.Ile176Thr
ENST00000649003.1:c.527T>C ENSP00000497283.1:p.Ile176Thr
ENST00000650427.1:c.527T>C ENSP00000497367.1:p.Ile176Thr
ENST00000282561.3:c.527T>C ENSP00000282561.3:p.Ile176Thr
NM_000165.4:c.527T>C NP_000156.1:p.Ile176Thr
NM_000165.5:c.527T>C MANE Select NP_000156.1:p.Ile176Thr
Search 100 bp 5'
Search 100 bp 3'