Canonical Allele Identifier: CA375631326

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318061
• gnomAD v4: 9-136497194-T-C
• COSMIC: COSM3905749 ; COSM3905750
• MyVariant Identifiers: chr9:g.139391646T>C (hg19) ; chr9:g.136497194T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497194T>C , CM000671.2:g.136497194T>C	GRCh38
NC_000009.11:g.139391646T>C , CM000671.1:g.139391646T>C	GRCh37
NC_000009.10:g.138511467T>C	NCBI36
NG_007458.1:g.53593A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6545A>G MANE Select	ENSP00000498587.1:p.Lys2182Arg
ENST00000679595.1:c.*1585A>G	ENSP00000506241.1:n.*1585A>G
ENST00000679969.1:n.3141A>G
ENST00000680003.1:n.2877A>G
ENST00000680133.1:c.6431A>G	ENSP00000505319.1:p.Lys2144Arg
ENST00000680218.1:c.6425A>G	ENSP00000505339.1:p.Lys2142Arg
ENST00000680668.1:c.6431A>G	ENSP00000506336.1:p.Lys2144Arg
ENST00000680778.1:c.4142A>G	ENSP00000506033.1:p.Lys1381Arg
ENST00000680924.1:c.*3945A>G	ENSP00000506031.1:n.*3945A>G
ENST00000681135.1:c.*4154A>G	ENSP00000506636.1:n.*4154A>G
ENST00000681298.1:n.4650A>G
ENST00000681454.1:c.*5781A>G	ENSP00000505763.1:n.*5781A>G
ENST00000277541.6:c.6545A>G	ENSP00000277541.6:p.Lys2182Arg
NM_017617.3:c.6545A>G	NP_060087.3:p.Lys2182Arg
XM_011518717.1:c.5846A>G	XP_011517019.1:p.Lys1949Arg
NM_017617.5:c.6545A>G MANE Select	NP_060087.3:p.Lys2182Arg
XM_011518717.2:c.5822A>G	XP_011517019.2:p.Lys1941Arg