Canonical Allele Identifier: CA375631892

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391823T>A (hg19) ; chr9:g.136497371T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497371T>A , CM000671.2:g.136497371T>A	GRCh38
NC_000009.11:g.139391823T>A , CM000671.1:g.139391823T>A	GRCh37
NC_000009.10:g.138511644T>A	NCBI36
NG_007458.1:g.53416A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6368A>T MANE Select	ENSP00000498587.1:p.Gln2123Leu
ENST00000679595.1:c.*1408A>T	ENSP00000506241.1:n.*1408A>T
ENST00000679969.1:n.2964A>T
ENST00000680003.1:n.2700A>T
ENST00000680133.1:c.6254A>T	ENSP00000505319.1:p.Gln2085Leu
ENST00000680218.1:c.6248A>T	ENSP00000505339.1:p.Gln2083Leu
ENST00000680668.1:c.6254A>T	ENSP00000506336.1:p.Gln2085Leu
ENST00000680778.1:c.3965A>T	ENSP00000506033.1:p.Gln1322Leu
ENST00000680924.1:c.*3768A>T	ENSP00000506031.1:n.*3768A>T
ENST00000681135.1:c.*3977A>T	ENSP00000506636.1:n.*3977A>T
ENST00000681298.1:n.4473A>T
ENST00000681454.1:c.*5604A>T	ENSP00000505763.1:n.*5604A>T
ENST00000277541.6:c.6368A>T	ENSP00000277541.6:p.Gln2123Leu
NM_017617.3:c.6368A>T	NP_060087.3:p.Gln2123Leu
XM_011518717.1:c.5669A>T	XP_011517019.1:p.Gln1890Leu
NM_017617.5:c.6368A>T MANE Select	NP_060087.3:p.Gln2123Leu
XM_011518717.2:c.5645A>T	XP_011517019.2:p.Gln1882Leu