Canonical Allele Identifier: CA84733817

Gene: ATR

Linked Data

• ClinVar Variation Id: 1752400
• ClinVar RCV Id: RCV002366633
• dbSNP Id: rs757111609
• gnomAD v4: 3-142470159-G-A
• MyVariant Identifiers: chr3:g.142189001G>A (hg19) ; chr3:g.142470159G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142470159G>A , CM000665.2:g.142470159G>A	GRCh38
NC_000003.11:g.142189001G>A , CM000665.1:g.142189001G>A	GRCh37
NC_000003.10:g.143671691G>A	NCBI36
NG_008951.1:g.113668C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.6246C>T MANE Select	ENSP00000343741.4:p.Phe2082=
ENST00000513291.2:n.1430C>T
ENST00000654170.1:n.1089C>T
ENST00000656590.1:c.5036C>T
ENST00000661310.1:c.6054C>T	ENSP00000499589.1:p.Phe2018=
ENST00000665483.1:n.101C>T
ENST00000666447.1:n.81C>T
ENST00000666943.1:n.1710C>T
ENST00000350721.8:c.6246C>T	ENSP00000343741.4:p.Phe2082=
NM_001184.3:c.6246C>T	NP_001175.2:p.Phe2082=
XM_011512924.1:c.6252C>T	XP_011511226.1:p.Phe2084=
XM_011512925.1:c.6060C>T	XP_011511227.1:p.Phe2020=
XR_924147.1:n.6341C>T
XR_924148.1:n.6341C>T
XR_924149.1:n.6220C>T
NM_001354579.1:c.6054C>T	NP_001341508.1:p.Phe2018=
XR_001740179.2:n.6335C>T
XR_001740180.2:n.6389C>T
XR_001740181.2:n.6268C>T
XR_001740182.1:n.6220C>T
XR_002959543.1:n.6445C>T
XR_924148.2:n.6341C>T
NM_001184.4:c.6246C>T MANE Select	NP_001175.2:p.Phe2082=
NM_001354579.2:c.6054C>T	NP_001341508.1:p.Phe2018=