Canonical Allele Identifier: CA375631152

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1589053221
• gnomAD v4: 9-136497151-C-T
• MyVariant Identifiers: chr9:g.139391603C>T (hg19) ; chr9:g.136497151C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497151C>T , CM000671.2:g.136497151C>T	GRCh38
NC_000009.11:g.139391603C>T , CM000671.1:g.139391603C>T	GRCh37
NC_000009.10:g.138511424C>T	NCBI36
NG_007458.1:g.53636G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6588G>A MANE Select	ENSP00000498587.1:p.Met2196Ile
ENST00000679595.1:c.*1628G>A	ENSP00000506241.1:n.*1628G>A
ENST00000679969.1:n.3184G>A
ENST00000680003.1:n.2920G>A
ENST00000680133.1:c.6474G>A	ENSP00000505319.1:p.Met2158Ile
ENST00000680218.1:c.6468G>A	ENSP00000505339.1:p.Met2156Ile
ENST00000680668.1:c.6474G>A	ENSP00000506336.1:p.Met2158Ile
ENST00000680778.1:c.4185G>A	ENSP00000506033.1:p.Met1395Ile
ENST00000680924.1:c.*3988G>A	ENSP00000506031.1:n.*3988G>A
ENST00000681135.1:c.*4197G>A	ENSP00000506636.1:n.*4197G>A
ENST00000681298.1:n.4693G>A
ENST00000681454.1:c.*5824G>A	ENSP00000505763.1:n.*5824G>A
ENST00000277541.6:c.6588G>A	ENSP00000277541.6:p.Met2196Ile
NM_017617.3:c.6588G>A	NP_060087.3:p.Met2196Ile
XM_011518717.1:c.5889G>A	XP_011517019.1:p.Met1963Ile
NM_017617.5:c.6588G>A MANE Select	NP_060087.3:p.Met2196Ile
XM_011518717.2:c.5865G>A	XP_011517019.2:p.Met1955Ile