Canonical Allele Identifier: CA375644130

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139399161C>A (hg19) ; chr9:g.136504709C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504709C>A , CM000671.2:g.136504709C>A	GRCh38
NC_000009.11:g.139399161C>A , CM000671.1:g.139399161C>A	GRCh37
NC_000009.10:g.138518982C>A	NCBI36
NG_007458.1:g.46078G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2789G>T
ENST00000651671.1:c.4982G>T MANE Select	ENSP00000498587.1:p.Arg1661Leu
ENST00000679595.1:c.4982G>T	ENSP00000506241.1:p.Arg1661Leu
ENST00000680133.1:c.4868G>T	ENSP00000505319.1:p.Arg1623Leu
ENST00000680218.1:c.4862G>T	ENSP00000505339.1:p.Arg1621Leu
ENST00000680668.1:c.4868G>T	ENSP00000506336.1:p.Arg1623Leu
ENST00000680778.1:c.2579G>T	ENSP00000506033.1:p.Arg860Leu
ENST00000680924.1:c.*2382G>T	ENSP00000506031.1:n.*2382G>T
ENST00000681135.1:c.*2591G>T	ENSP00000506636.1:n.*2591G>T
ENST00000681298.1:n.1795G>T
ENST00000681454.1:c.*4218G>T	ENSP00000505763.1:n.*4218G>T
ENST00000277541.6:c.4982G>T	ENSP00000277541.6:p.Arg1661Leu
ENST00000494783.1:n.137G>T
NM_017617.3:c.4982G>T	NP_060087.3:p.Arg1661Leu
XM_011518717.1:c.4283G>T	XP_011517019.1:p.Arg1428Leu
NM_017617.5:c.4982G>T MANE Select	NP_060087.3:p.Arg1661Leu
XM_011518717.2:c.4259G>T	XP_011517019.2:p.Arg1420Leu