Canonical Allele Identifier: CA354824476

Gene: ATR

Linked Data

• dbSNP Id: rs28897764
• gnomAD v4: 3-142562456-C-A
• MyVariant Identifiers: chr3:g.142281298C>A (hg19) ; chr3:g.142562456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.142562456C>A , CM000665.2:g.142562456C>A	GRCh38
NC_000003.11:g.142281298C>A , CM000665.1:g.142281298C>A	GRCh37
NC_000003.10:g.143763988C>A	NCBI36
NG_008951.1:g.21371G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350721.9:c.946G>T MANE Select	ENSP00000343741.4:p.Val316Phe
ENST00000515149.3:c.293-1035G>T	ENSP00000425897.3:n.293-1035G>T
ENST00000653868.1:n.975G>T
ENST00000657914.1:n.3304G>T
ENST00000659195.1:n.3011G>T
ENST00000661310.1:c.946G>T	ENSP00000499589.1:p.Val316Phe
ENST00000350721.8:c.946G>T	ENSP00000343741.4:p.Val316Phe
ENST00000507148.1:c.293-108G>T	ENSP00000426595.1:n.293-108G>T
NM_001184.3:c.946G>T	NP_001175.2:p.Val316Phe
XM_011512924.1:c.946G>T	XP_011511226.1:p.Val316Phe
XM_011512925.1:c.946G>T	XP_011511227.1:p.Val316Phe
XM_011512926.1:c.946G>T	XP_011511228.1:p.Val316Phe
XM_011512927.1:c.946G>T	XP_011511229.1:p.Val316Phe
XR_924147.1:n.1035G>T
XR_924148.1:n.1035G>T
XR_924149.1:n.1035G>T
NM_001354579.1:c.946G>T	NP_001341508.1:p.Val316Phe
XR_001740179.2:n.1035G>T
XR_001740180.2:n.1035G>T
XR_001740181.2:n.1035G>T
XR_001740182.1:n.1035G>T
XR_002959543.1:n.1035G>T
XR_924148.2:n.1035G>T
NM_001184.4:c.946G>T MANE Select	NP_001175.2:p.Val316Phe
NM_001354579.2:c.946G>T	NP_001341508.1:p.Val316Phe