Canonical Allele Identifier: CA1214495

Gene: ATF6

Linked Data

• ClinVar Variation Id: 1391917
• ClinVar RCV Id: RCV001911114
• dbSNP Id: rs762860439
• ExAC: 1:161823112 A / G
• gnomAD v2: 1-161823112-A-G
• gnomAD v3: 1-161853322-A-G
• gnomAD v4: 1-161853322-A-G
• MyVariant Identifiers: chr1:g.161823112A>G (hg19) ; chr1:g.161853322A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161853322A>G , CM000663.2:g.161853322A>G	GRCh38
NC_000001.10:g.161823112A>G , CM000663.1:g.161823112A>G	GRCh37
NC_000001.9:g.160089736A>G	NCBI36
NG_029773.1:g.92079A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367942.4:c.1532A>G MANE Select	ENSP00000356919.3:p.Gln511Arg
ENST00000679833.1:c.1532A>G	ENSP00000505321.1:p.Gln511Arg
ENST00000679853.1:c.1532A>G	ENSP00000506149.1:p.Gln511Arg
ENST00000679886.1:c.926A>G	ENSP00000506559.1:p.Gln309Arg
ENST00000680180.1:n.1572A>G
ENST00000680462.1:c.1532A>G	ENSP00000505583.1:p.Gln511Arg
ENST00000680481.1:c.*1155A>G	ENSP00000505919.1:n.*1155A>G
ENST00000680688.1:c.1589A>G	ENSP00000504865.1:p.Gln530Arg
ENST00000681001.1:c.*1384A>G	ENSP00000506145.1:n.*1384A>G
ENST00000681036.1:c.1334A>G	ENSP00000505474.1:p.Gln445Arg
ENST00000681169.1:c.*450A>G	ENSP00000505455.1:n.*450A>G
ENST00000681187.1:n.1572A>G
ENST00000681492.1:c.1532A>G	ENSP00000506139.1:p.Gln511Arg
ENST00000681541.1:c.1334A>G	ENSP00000506087.1:p.Gln445Arg
ENST00000681557.1:c.*1333A>G	ENSP00000506229.1:n.*1333A>G
ENST00000681738.1:c.1532A>G	ENSP00000505025.1:p.Gln511Arg
ENST00000681779.1:n.1582A>G
ENST00000681801.1:c.1532A>G	ENSP00000505998.1:p.Gln511Arg
ENST00000681912.1:c.1148A>G	ENSP00000505875.1:p.Gln383Arg
ENST00000367942.3:c.1532A>G	ENSP00000356919.3:p.Gln511Arg
ENST00000476437.1:n.739A>G
NM_007348.3:c.1532A>G	NP_031374.2:p.Gln511Arg
XM_006711224.1:c.1532A>G	XP_006711287.1:p.Gln511Arg
XM_011509308.1:c.1589A>G	XP_011507610.1:p.Gln530Arg
XM_011509309.1:c.1589A>G	XP_011507611.1:p.Gln530Arg
XM_011509310.1:c.1589A>G	XP_011507612.1:p.Gln530Arg
XM_011509310.2:c.1589A>G	XP_011507612.1:p.Gln530Arg
NM_007348.4:c.1532A>G MANE Select	NP_031374.2:p.Gln511Arg