Canonical Allele Identifier: CA375631333

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842930773
• MyVariant Identifiers: chr9:g.139391648C>G (hg19) ; chr9:g.136497196C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497196C>G , CM000671.2:g.136497196C>G	GRCh38
NC_000009.11:g.139391648C>G , CM000671.1:g.139391648C>G	GRCh37
NC_000009.10:g.138511469C>G	NCBI36
NG_007458.1:g.53591G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6543G>C MANE Select	ENSP00000498587.1:p.Lys2181Asn
ENST00000679595.1:c.*1583G>C	ENSP00000506241.1:n.*1583G>C
ENST00000679969.1:n.3139G>C
ENST00000680003.1:n.2875G>C
ENST00000680133.1:c.6429G>C	ENSP00000505319.1:p.Lys2143Asn
ENST00000680218.1:c.6423G>C	ENSP00000505339.1:p.Lys2141Asn
ENST00000680668.1:c.6429G>C	ENSP00000506336.1:p.Lys2143Asn
ENST00000680778.1:c.4140G>C	ENSP00000506033.1:p.Lys1380Asn
ENST00000680924.1:c.*3943G>C	ENSP00000506031.1:n.*3943G>C
ENST00000681135.1:c.*4152G>C	ENSP00000506636.1:n.*4152G>C
ENST00000681298.1:n.4648G>C
ENST00000681454.1:c.*5779G>C	ENSP00000505763.1:n.*5779G>C
ENST00000277541.6:c.6543G>C	ENSP00000277541.6:p.Lys2181Asn
NM_017617.3:c.6543G>C	NP_060087.3:p.Lys2181Asn
XM_011518717.1:c.5844G>C	XP_011517019.1:p.Lys1948Asn
NM_017617.5:c.6543G>C MANE Select	NP_060087.3:p.Lys2181Asn
XM_011518717.2:c.5820G>C	XP_011517019.2:p.Lys1940Asn