Canonical Allele Identifier: CA375643974

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1045824529
• gnomAD v4: 9-136504684-C-G
• MyVariant Identifiers: chr9:g.139399136C>G (hg19) ; chr9:g.136504684C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504684C>G , CM000671.2:g.136504684C>G	GRCh38
NC_000009.11:g.139399136C>G , CM000671.1:g.139399136C>G	GRCh37
NC_000009.10:g.138518957C>G	NCBI36
NG_007458.1:g.46103G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000645828.1:n.2814G>C
ENST00000651671.1:c.5007G>C MANE Select	ENSP00000498587.1:p.Met1669Ile
ENST00000679595.1:c.5007G>C	ENSP00000506241.1:p.Met1669Ile
ENST00000680133.1:c.4893G>C	ENSP00000505319.1:p.Met1631Ile
ENST00000680218.1:c.4887G>C	ENSP00000505339.1:p.Met1629Ile
ENST00000680668.1:c.4893G>C	ENSP00000506336.1:p.Met1631Ile
ENST00000680778.1:c.2604G>C	ENSP00000506033.1:p.Met868Ile
ENST00000680924.1:c.*2407G>C	ENSP00000506031.1:n.*2407G>C
ENST00000681135.1:c.*2616G>C	ENSP00000506636.1:n.*2616G>C
ENST00000681298.1:n.1820G>C
ENST00000681454.1:c.*4243G>C	ENSP00000505763.1:n.*4243G>C
ENST00000277541.6:c.5007G>C	ENSP00000277541.6:p.Met1669Ile
ENST00000494783.1:n.162G>C
NM_017617.3:c.5007G>C	NP_060087.3:p.Met1669Ile
XM_011518717.1:c.4308G>C	XP_011517019.1:p.Met1436Ile
NM_017617.5:c.5007G>C MANE Select	NP_060087.3:p.Met1669Ile
XM_011518717.2:c.4284G>C	XP_011517019.2:p.Met1428Ile