Canonical Allele Identifier: CA3736338
Gene: ATF6B HGNC NCBI
COSMIC:
COSM5425112 (not active)
MyVariant.info:
GRCh38 chr6:g.32121077G>C
GRCh37 chr6:g.32088854G>C
gnomAD v2:
6:32088854 G / C
gnomAD v3:
6:32121077 G / C
gnomAD v4:
chr6-32121077-G-C
Joint Max Group AF 0.30784495 (MID)
Genomes Max Group AF 0.29004078 (AMR)
Exomes Max Group AF 0.30574988 (MID)
dbSNP:
2228628
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.32121077G>C , CM000668.2:g.32121077G>C GRCh38
NC_000006.11:g.32088854G>C , CM000668.1:g.32088854G>C GRCh37
NC_000006.10:g.32196832G>C NCBI36
NG_033940.1:g.12164C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000375203.8:c.612C>G MANE Select ENSP00000364349.3:p.Ser204=
ENST00000453203.2:c.612C>G ENSP00000393419.2:p.Ser204=
ENST00000375201.8:c.603C>G ENSP00000364347.4:p.Ser201=
ENST00000375203.7:c.612C>G ENSP00000364349.3:p.Ser204=
ENST00000485314.5:n.538C>G
ENST00000495579.5:n.627C>G
NM_001136153.1:c.603C>G NP_001129625.1:p.Ser201=
NM_004381.4:c.612C>G NP_004372.3:p.Ser204=
NM_004381.5:c.612C>G MANE Select NP_004372.3:p.Ser204=
NM_001136153.2:c.603C>G NP_001129625.1:p.Ser201=
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