Canonical Allele Identifier: CA375644716

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336443
• gnomAD v4: 9-136504846-C-A
• COSMIC: COSM5414741 ; COSM5414742
• MyVariant Identifiers: chr9:g.139399298C>A (hg19) ; chr9:g.136504846C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504846C>A , CM000671.2:g.136504846C>A	GRCh38
NC_000009.11:g.139399298C>A , CM000671.1:g.139399298C>A	GRCh37
NC_000009.10:g.138519119C>A	NCBI36
NG_007458.1:g.45941G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2652G>T
ENST00000651671.1:c.4845G>T MANE Select	ENSP00000498587.1:p.Met1615Ile
ENST00000679595.1:c.4845G>T	ENSP00000506241.1:p.Met1615Ile
ENST00000680133.1:c.4731G>T	ENSP00000505319.1:p.Met1577Ile
ENST00000680218.1:c.4725G>T	ENSP00000505339.1:p.Met1575Ile
ENST00000680668.1:c.4731G>T	ENSP00000506336.1:p.Met1577Ile
ENST00000680778.1:c.2442G>T	ENSP00000506033.1:p.Met814Ile
ENST00000680924.1:c.*2245G>T	ENSP00000506031.1:n.*2245G>T
ENST00000681135.1:c.*2454G>T	ENSP00000506636.1:n.*2454G>T
ENST00000681298.1:n.1658G>T
ENST00000681454.1:c.*4081G>T	ENSP00000505763.1:n.*4081G>T
ENST00000277541.6:c.4845G>T	ENSP00000277541.6:p.Met1615Ile
NM_017617.3:c.4845G>T	NP_060087.3:p.Met1615Ile
XM_011518717.1:c.4146G>T	XP_011517019.1:p.Met1382Ile
NM_017617.5:c.4845G>T MANE Select	NP_060087.3:p.Met1615Ile
XM_011518717.2:c.4122G>T	XP_011517019.2:p.Met1374Ile