Canonical Allele Identifier: CA375645191

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337035
• MyVariant Identifiers: chr9:g.139399392T>A (hg19) ; chr9:g.136504940T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504940T>A , CM000671.2:g.136504940T>A	GRCh38
NC_000009.11:g.139399392T>A , CM000671.1:g.139399392T>A	GRCh37
NC_000009.10:g.138519213T>A	NCBI36
NG_007458.1:g.45847A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2558A>T
ENST00000651671.1:c.4751A>T MANE Select	ENSP00000498587.1:p.Gln1584Leu
ENST00000679595.1:c.4751A>T	ENSP00000506241.1:p.Gln1584Leu
ENST00000680133.1:c.4637A>T	ENSP00000505319.1:p.Gln1546Leu
ENST00000680218.1:c.4631A>T	ENSP00000505339.1:p.Gln1544Leu
ENST00000680668.1:c.4637A>T	ENSP00000506336.1:p.Gln1546Leu
ENST00000680778.1:c.2348A>T	ENSP00000506033.1:p.Gln783Leu
ENST00000680924.1:c.*2151A>T	ENSP00000506031.1:n.*2151A>T
ENST00000681135.1:c.*2360A>T	ENSP00000506636.1:n.*2360A>T
ENST00000681298.1:n.1564A>T
ENST00000681454.1:c.*3987A>T	ENSP00000505763.1:n.*3987A>T
ENST00000277541.6:c.4751A>T	ENSP00000277541.6:p.Gln1584Leu
NM_017617.3:c.4751A>T	NP_060087.3:p.Gln1584Leu
XM_011518717.1:c.4052A>T	XP_011517019.1:p.Gln1351Leu
NM_017617.5:c.4751A>T MANE Select	NP_060087.3:p.Gln1584Leu
XM_011518717.2:c.4028A>T	XP_011517019.2:p.Gln1343Leu