Canonical Allele Identifier: CA436172445

Gene: ATR

Linked Data

• ClinVar Variation Id: 702854
• ClinVar RCV Id: RCV000872172 ; RCV003127534 ; RCV002444940 ; RCV003127535
• dbSNP Id: rs1397771631
• gnomAD v2: 3-142281941-A-G
• gnomAD v3: 3-142563099-A-G
• gnomAD v4: 3-142563099-A-G
• MyVariant Identifiers: chr3:g.142281941A>G (hg19) ; chr3:g.142563099A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142563099A>G , CM000665.2:g.142563099A>G	GRCh38
NC_000003.11:g.142281941A>G , CM000665.1:g.142281941A>G	GRCh37
NC_000003.10:g.143764631A>G	NCBI36
NG_008951.1:g.20728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.303T>C MANE Select	ENSP00000343741.4:p.Asn101=
ENST00000515149.3:c.293-1678T>C	ENSP00000425897.3:n.293-1678T>C
ENST00000653868.1:n.332T>C
ENST00000657914.1:n.2661T>C
ENST00000659195.1:n.2368T>C
ENST00000661310.1:c.303T>C	ENSP00000499589.1:p.Asn101=
ENST00000350721.8:c.303T>C	ENSP00000343741.4:p.Asn101=
ENST00000507148.1:c.293-751T>C	ENSP00000426595.1:n.293-751T>C
NM_001184.3:c.303T>C	NP_001175.2:p.Asn101=
XM_011512924.1:c.303T>C	XP_011511226.1:p.Asn101=
XM_011512925.1:c.303T>C	XP_011511227.1:p.Asn101=
XM_011512926.1:c.303T>C	XP_011511228.1:p.Asn101=
XM_011512927.1:c.303T>C	XP_011511229.1:p.Asn101=
XR_924147.1:n.392T>C
XR_924148.1:n.392T>C
XR_924149.1:n.392T>C
NM_001354579.1:c.303T>C	NP_001341508.1:p.Asn101=
XR_001740179.2:n.392T>C
XR_001740180.2:n.392T>C
XR_001740181.2:n.392T>C
XR_001740182.1:n.392T>C
XR_002959543.1:n.392T>C
XR_924148.2:n.392T>C
NM_001184.4:c.303T>C MANE Select	NP_001175.2:p.Asn101=
NM_001354579.2:c.303T>C	NP_001341508.1:p.Asn101=