Canonical Allele Identifier: CA375644473

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504796-T-A
• MyVariant Identifiers: chr9:g.139399248T>A (hg19) ; chr9:g.136504796T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504796T>A , CM000671.2:g.136504796T>A	GRCh38
NC_000009.11:g.139399248T>A , CM000671.1:g.139399248T>A	GRCh37
NC_000009.10:g.138519069T>A	NCBI36
NG_007458.1:g.45991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2702A>T
ENST00000651671.1:c.4895A>T MANE Select	ENSP00000498587.1:p.Lys1632Met
ENST00000679595.1:c.4895A>T	ENSP00000506241.1:p.Lys1632Met
ENST00000680133.1:c.4781A>T	ENSP00000505319.1:p.Lys1594Met
ENST00000680218.1:c.4775A>T	ENSP00000505339.1:p.Lys1592Met
ENST00000680668.1:c.4781A>T	ENSP00000506336.1:p.Lys1594Met
ENST00000680778.1:c.2492A>T	ENSP00000506033.1:p.Lys831Met
ENST00000680924.1:c.*2295A>T	ENSP00000506031.1:n.*2295A>T
ENST00000681135.1:c.*2504A>T	ENSP00000506636.1:n.*2504A>T
ENST00000681298.1:n.1708A>T
ENST00000681454.1:c.*4131A>T	ENSP00000505763.1:n.*4131A>T
ENST00000277541.6:c.4895A>T	ENSP00000277541.6:p.Lys1632Met
ENST00000494783.1:n.50A>T
NM_017617.3:c.4895A>T	NP_060087.3:p.Lys1632Met
XM_011518717.1:c.4196A>T	XP_011517019.1:p.Lys1399Met
NM_017617.5:c.4895A>T MANE Select	NP_060087.3:p.Lys1632Met
XM_011518717.2:c.4172A>T	XP_011517019.2:p.Lys1391Met