Canonical Allele Identifier: CA1214491

Gene: ATF6

Linked Data

• ClinVar Variation Id: 1018100
• ClinVar RCV Id: RCV001317353 ; RCV004034420
• dbSNP Id: rs201415050
• ExAC: 1:161823100 C / A
• gnomAD v2: 1-161823100-C-A
• gnomAD v3: 1-161853310-C-A
• gnomAD v4: 1-161853310-C-A
• MyVariant Identifiers: chr1:g.161823100C>A (hg19) ; chr1:g.161853310C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.161853310C>A , CM000663.2:g.161853310C>A	GRCh38
NC_000001.10:g.161823100C>A , CM000663.1:g.161823100C>A	GRCh37
NC_000001.9:g.160089724C>A	NCBI36
NG_029773.1:g.92067C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367942.4:c.1520C>A MANE Select	ENSP00000356919.3:p.Thr507Asn
ENST00000679833.1:c.1520C>A	ENSP00000505321.1:p.Thr507Asn
ENST00000679853.1:c.1520C>A	ENSP00000506149.1:p.Thr507Asn
ENST00000679886.1:c.914C>A	ENSP00000506559.1:p.Thr305Asn
ENST00000680180.1:n.1560C>A
ENST00000680462.1:c.1520C>A	ENSP00000505583.1:p.Thr507Asn
ENST00000680481.1:c.*1143C>A	ENSP00000505919.1:n.*1143C>A
ENST00000680688.1:c.1577C>A	ENSP00000504865.1:p.Thr526Asn
ENST00000681001.1:c.*1372C>A	ENSP00000506145.1:n.*1372C>A
ENST00000681036.1:c.1322C>A	ENSP00000505474.1:p.Thr441Asn
ENST00000681169.1:c.*438C>A	ENSP00000505455.1:n.*438C>A
ENST00000681187.1:n.1560C>A
ENST00000681492.1:c.1520C>A	ENSP00000506139.1:p.Thr507Asn
ENST00000681541.1:c.1322C>A	ENSP00000506087.1:p.Thr441Asn
ENST00000681557.1:c.*1321C>A	ENSP00000506229.1:n.*1321C>A
ENST00000681738.1:c.1520C>A	ENSP00000505025.1:p.Thr507Asn
ENST00000681779.1:n.1570C>A
ENST00000681801.1:c.1520C>A	ENSP00000505998.1:p.Thr507Asn
ENST00000681912.1:c.1136C>A	ENSP00000505875.1:p.Thr379Asn
ENST00000367942.3:c.1520C>A	ENSP00000356919.3:p.Thr507Asn
ENST00000476437.1:n.727C>A
NM_007348.3:c.1520C>A	NP_031374.2:p.Thr507Asn
XM_006711224.1:c.1520C>A	XP_006711287.1:p.Thr507Asn
XM_011509308.1:c.1577C>A	XP_011507610.1:p.Thr526Asn
XM_011509309.1:c.1577C>A	XP_011507611.1:p.Thr526Asn
XM_011509310.1:c.1577C>A	XP_011507612.1:p.Thr526Asn
XM_011509310.2:c.1577C>A	XP_011507612.1:p.Thr526Asn
NM_007348.4:c.1520C>A MANE Select	NP_031374.2:p.Thr507Asn