Canonical Allele Identifier: CA436171977

Gene: ATR

Linked Data

• ClinVar Variation Id: 1792514
• ClinVar RCV Id: RCV002433032
• dbSNP Id: rs1236902469
• gnomAD v2: 3-142281143-G-A
• gnomAD v4: 3-142562301-G-A
• MyVariant Identifiers: chr3:g.142281143G>A (hg19) ; chr3:g.142562301G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562301G>A , CM000665.2:g.142562301G>A	GRCh38
NC_000003.11:g.142281143G>A , CM000665.1:g.142281143G>A	GRCh37
NC_000003.10:g.143763833G>A	NCBI36
NG_008951.1:g.21526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.1101C>T MANE Select	ENSP00000343741.4:p.Val367=
ENST00000515149.3:c.293-880C>T	ENSP00000425897.3:n.293-880C>T
ENST00000653868.1:n.1130C>T
ENST00000657914.1:n.3459C>T
ENST00000659195.1:n.3166C>T
ENST00000661310.1:c.1101C>T	ENSP00000499589.1:p.Val367=
ENST00000350721.8:c.1101C>T	ENSP00000343741.4:p.Val367=
ENST00000507148.1:c.*37C>T	ENSP00000426595.1:n.*37C>T
ENST00000515149.2:c.144C>T	ENSP00000425897.2:p.Val48=
NM_001184.3:c.1101C>T	NP_001175.2:p.Val367=
XM_011512924.1:c.1101C>T	XP_011511226.1:p.Val367=
XM_011512925.1:c.1101C>T	XP_011511227.1:p.Val367=
XM_011512926.1:c.1101C>T	XP_011511228.1:p.Val367=
XM_011512927.1:c.1101C>T	XP_011511229.1:p.Val367=
XR_924147.1:n.1190C>T
XR_924148.1:n.1190C>T
XR_924149.1:n.1190C>T
NM_001354579.1:c.1101C>T	NP_001341508.1:p.Val367=
XR_001740179.2:n.1190C>T
XR_001740180.2:n.1190C>T
XR_001740181.2:n.1190C>T
XR_001740182.1:n.1190C>T
XR_002959543.1:n.1190C>T
XR_924148.2:n.1190C>T
NM_001184.4:c.1101C>T MANE Select	NP_001175.2:p.Val367=
NM_001354579.2:c.1101C>T	NP_001341508.1:p.Val367=