Canonical Allele Identifier: CA15434252
Gene: ATF6B HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.32115523A>G
GRCh37 chr6:g.32083300A>G
gnomAD v2:
6:32083300 A / G
gnomAD v3:
6:32115523 A / G
gnomAD v4:
chr6-32115523-A-G
Joint Max Group AF 0.44791464 (SAS)
Genomes Max Group AF 0.45578882 (SAS)
Exomes Max Group AF 0.43815253 (SAS)
dbSNP:
8283
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32115523A>G , CM000668.2:g.32115523A>G GRCh38
NC_000006.11:g.32083300A>G , CM000668.1:g.32083300A>G GRCh37
NC_000006.10:g.32191278A>G NCBI36
NG_033940.1:g.17718T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000375203.8:c.*216T>C MANE Select ENSP00000364349.3:n.*216T>C
ENST00000453203.2:c.*467T>C ENSP00000393419.2:n.*467T>C
ENST00000375201.8:c.*216T>C ENSP00000364347.4:n.*216T>C
ENST00000375203.7:c.*216T>C ENSP00000364349.3:n.*216T>C
ENST00000494022.1:n.289+1181T>C
NM_001136153.1:c.*216T>C NP_001129625.1:n.*216T>C
NM_004381.4:c.*216T>C NP_004372.3:n.*216T>C
NM_004381.5:c.*216T>C MANE Select NP_004372.3:n.*216T>C
NM_001136153.2:c.*216T>C NP_001129625.1:n.*216T>C
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