Canonical Allele Identifier: CA15453472
Gene: ATF6B HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32115398C>T
GRCh37 chr6:g.32083175C>T
gnomAD v2:
6:32083175 C / T
gnomAD v3:
6:32115398 C / T
gnomAD v4:
chr6-32115398-C-T
Joint Max Group AF 0.37549941 (MID)
Genomes Max Group AF 0.35765969 (AMR)
Exomes Max Group AF 0.54258496 (NFE)
dbSNP:
8111
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32115398C>T , CM000668.2:g.32115398C>T GRCh38
NC_000006.11:g.32083175C>T , CM000668.1:g.32083175C>T GRCh37
NC_000006.10:g.32191153C>T NCBI36
NG_033940.1:g.17843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375203.8:c.*341G>A MANE Select ENSP00000364349.3:n.*341G>A
ENST00000453203.2:c.*592G>A ENSP00000393419.2:n.*592G>A
ENST00000375201.8:c.*341G>A ENSP00000364347.4:n.*341G>A
ENST00000375203.7:c.*341G>A ENSP00000364349.3:n.*341G>A
ENST00000494022.1:n.289+1306G>A
NM_001136153.1:c.*341G>A NP_001129625.1:n.*341G>A
NM_004381.4:c.*341G>A NP_004372.3:n.*341G>A
NM_004381.5:c.*341G>A MANE Select NP_004372.3:n.*341G>A
NM_001136153.2:c.*341G>A NP_001129625.1:n.*341G>A
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