Canonical Allele Identifier: CA375634011

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321780
• MyVariant Identifiers: chr9:g.139393414G>C (hg19) ; chr9:g.136498962G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498962G>C , CM000671.2:g.136498962G>C	GRCh38
NC_000009.11:g.139393414G>C , CM000671.1:g.139393414G>C	GRCh37
NC_000009.10:g.138513235G>C	NCBI36
NG_007458.1:g.51825C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6117C>G MANE Select	ENSP00000498587.1:p.Asn2039Lys
ENST00000679595.1:c.*1157C>G	ENSP00000506241.1:n.*1157C>G
ENST00000679969.1:n.2713C>G
ENST00000680003.1:n.2449C>G
ENST00000680133.1:c.6003C>G	ENSP00000505319.1:p.Asn2001Lys
ENST00000680218.1:c.5997C>G	ENSP00000505339.1:p.Asn1999Lys
ENST00000680668.1:c.6003C>G	ENSP00000506336.1:p.Asn2001Lys
ENST00000680778.1:c.3714C>G	ENSP00000506033.1:p.Asn1238Lys
ENST00000680924.1:c.*3517C>G	ENSP00000506031.1:n.*3517C>G
ENST00000681135.1:c.*3726C>G	ENSP00000506636.1:n.*3726C>G
ENST00000681298.1:n.4222C>G
ENST00000681454.1:c.*5353C>G	ENSP00000505763.1:n.*5353C>G
ENST00000277541.6:c.6117C>G	ENSP00000277541.6:p.Asn2039Lys
NM_017617.3:c.6117C>G	NP_060087.3:p.Asn2039Lys
XM_011518717.1:c.5418C>G	XP_011517019.1:p.Asn1806Lys
NM_017617.5:c.6117C>G MANE Select	NP_060087.3:p.Asn2039Lys
XM_011518717.2:c.5394C>G	XP_011517019.2:p.Asn1798Lys