Canonical Allele Identifier: CA375644964

Gene: NOTCH1

Linked Data

• dbSNP Id: rs543770603
• MyVariant Identifiers: chr9:g.139399348C>G (hg19) ; chr9:g.136504896C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504896C>G , CM000671.2:g.136504896C>G	GRCh38
NC_000009.11:g.139399348C>G , CM000671.1:g.139399348C>G	GRCh37
NC_000009.10:g.138519169C>G	NCBI36
NG_007458.1:g.45891G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2602G>C
ENST00000651671.1:c.4795G>C MANE Select	ENSP00000498587.1:p.Val1599Leu
ENST00000679595.1:c.4795G>C	ENSP00000506241.1:p.Val1599Leu
ENST00000680133.1:c.4681G>C	ENSP00000505319.1:p.Val1561Leu
ENST00000680218.1:c.4675G>C	ENSP00000505339.1:p.Val1559Leu
ENST00000680668.1:c.4681G>C	ENSP00000506336.1:p.Val1561Leu
ENST00000680778.1:c.2392G>C	ENSP00000506033.1:p.Val798Leu
ENST00000680924.1:c.*2195G>C	ENSP00000506031.1:n.*2195G>C
ENST00000681135.1:c.*2404G>C	ENSP00000506636.1:n.*2404G>C
ENST00000681298.1:n.1608G>C
ENST00000681454.1:c.*4031G>C	ENSP00000505763.1:n.*4031G>C
ENST00000277541.6:c.4795G>C	ENSP00000277541.6:p.Val1599Leu
NM_017617.3:c.4795G>C	NP_060087.3:p.Val1599Leu
XM_011518717.1:c.4096G>C	XP_011517019.1:p.Val1366Leu
NM_017617.5:c.4795G>C MANE Select	NP_060087.3:p.Val1599Leu
XM_011518717.2:c.4072G>C	XP_011517019.2:p.Val1358Leu