Canonical Allele Identifier: CA375631453

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1722830
• ClinVar RCV Id: RCV002305937
• MyVariant Identifiers: chr9:g.139391679T>A (hg19) ; chr9:g.136497227T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497227T>A , CM000671.2:g.136497227T>A	GRCh38
NC_000009.11:g.139391679T>A , CM000671.1:g.139391679T>A	GRCh37
NC_000009.10:g.138511500T>A	NCBI36
NG_007458.1:g.53560A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6512A>T MANE Select	ENSP00000498587.1:p.Lys2171Met
ENST00000679595.1:c.*1552A>T	ENSP00000506241.1:n.*1552A>T
ENST00000679969.1:n.3108A>T
ENST00000680003.1:n.2844A>T
ENST00000680133.1:c.6398A>T	ENSP00000505319.1:p.Lys2133Met
ENST00000680218.1:c.6392A>T	ENSP00000505339.1:p.Lys2131Met
ENST00000680668.1:c.6398A>T	ENSP00000506336.1:p.Lys2133Met
ENST00000680778.1:c.4109A>T	ENSP00000506033.1:p.Lys1370Met
ENST00000680924.1:c.*3912A>T	ENSP00000506031.1:n.*3912A>T
ENST00000681135.1:c.*4121A>T	ENSP00000506636.1:n.*4121A>T
ENST00000681298.1:n.4617A>T
ENST00000681454.1:c.*5748A>T	ENSP00000505763.1:n.*5748A>T
ENST00000277541.6:c.6512A>T	ENSP00000277541.6:p.Lys2171Met
NM_017617.3:c.6512A>T	NP_060087.3:p.Lys2171Met
XM_011518717.1:c.5813A>T	XP_011517019.1:p.Lys1938Met
NM_017617.5:c.6512A>T MANE Select	NP_060087.3:p.Lys2171Met
XM_011518717.2:c.5789A>T	XP_011517019.2:p.Lys1930Met