Canonical Allele Identifier: CA375631602

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 575209
• ClinVar RCV Id: RCV000697365
• dbSNP Id: rs1564568574
• gnomAD v4: 9-136497269-T-G
• MyVariant Identifiers: chr9:g.139391721T>G (hg19) ; chr9:g.136497269T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497269T>G , CM000671.2:g.136497269T>G	GRCh38
NC_000009.11:g.139391721T>G , CM000671.1:g.139391721T>G	GRCh37
NC_000009.10:g.138511542T>G	NCBI36
NG_007458.1:g.53518A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6470A>C MANE Select	ENSP00000498587.1:p.Lys2157Thr
ENST00000679595.1:c.*1510A>C	ENSP00000506241.1:n.*1510A>C
ENST00000679969.1:n.3066A>C
ENST00000680003.1:n.2802A>C
ENST00000680133.1:c.6356A>C	ENSP00000505319.1:p.Lys2119Thr
ENST00000680218.1:c.6350A>C	ENSP00000505339.1:p.Lys2117Thr
ENST00000680668.1:c.6356A>C	ENSP00000506336.1:p.Lys2119Thr
ENST00000680778.1:c.4067A>C	ENSP00000506033.1:p.Lys1356Thr
ENST00000680924.1:c.*3870A>C	ENSP00000506031.1:n.*3870A>C
ENST00000681135.1:c.*4079A>C	ENSP00000506636.1:n.*4079A>C
ENST00000681298.1:n.4575A>C
ENST00000681454.1:c.*5706A>C	ENSP00000505763.1:n.*5706A>C
ENST00000277541.6:c.6470A>C	ENSP00000277541.6:p.Lys2157Thr
NM_017617.3:c.6470A>C	NP_060087.3:p.Lys2157Thr
XM_011518717.1:c.5771A>C	XP_011517019.1:p.Lys1924Thr
NM_017617.5:c.6470A>C MANE Select	NP_060087.3:p.Lys2157Thr
XM_011518717.2:c.5747A>C	XP_011517019.2:p.Lys1916Thr