Canonical Allele Identifier: CA375644336

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335986
• gnomAD v4: 9-136504757-A-G
• MyVariant Identifiers: chr9:g.139399209A>G (hg19) ; chr9:g.136504757A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504757A>G , CM000671.2:g.136504757A>G	GRCh38
NC_000009.11:g.139399209A>G , CM000671.1:g.139399209A>G	GRCh37
NC_000009.10:g.138519030A>G	NCBI36
NG_007458.1:g.46030T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2741T>C
ENST00000651671.1:c.4934T>C MANE Select	ENSP00000498587.1:p.Leu1645Pro
ENST00000679595.1:c.4934T>C	ENSP00000506241.1:p.Leu1645Pro
ENST00000680133.1:c.4820T>C	ENSP00000505319.1:p.Leu1607Pro
ENST00000680218.1:c.4814T>C	ENSP00000505339.1:p.Leu1605Pro
ENST00000680668.1:c.4820T>C	ENSP00000506336.1:p.Leu1607Pro
ENST00000680778.1:c.2531T>C	ENSP00000506033.1:p.Leu844Pro
ENST00000680924.1:c.*2334T>C	ENSP00000506031.1:n.*2334T>C
ENST00000681135.1:c.*2543T>C	ENSP00000506636.1:n.*2543T>C
ENST00000681298.1:n.1747T>C
ENST00000681454.1:c.*4170T>C	ENSP00000505763.1:n.*4170T>C
ENST00000277541.6:c.4934T>C	ENSP00000277541.6:p.Leu1645Pro
ENST00000494783.1:n.89T>C
NM_017617.3:c.4934T>C	NP_060087.3:p.Leu1645Pro
XM_011518717.1:c.4235T>C	XP_011517019.1:p.Leu1412Pro
NM_017617.5:c.4934T>C MANE Select	NP_060087.3:p.Leu1645Pro
XM_011518717.2:c.4211T>C	XP_011517019.2:p.Leu1404Pro