Canonical Allele Identifier: CA375645967

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1280139694
• MyVariant Identifiers: chr9:g.139399532C>G (hg19) ; chr9:g.136505080C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505080C>G , CM000671.2:g.136505080C>G	GRCh38
NC_000009.11:g.139399532C>G , CM000671.1:g.139399532C>G	GRCh37
NC_000009.10:g.138519353C>G	NCBI36
NG_007458.1:g.45707G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2418G>C
ENST00000651671.1:c.4611G>C MANE Select	ENSP00000498587.1:p.Lys1537Asn
ENST00000679595.1:c.4611G>C	ENSP00000506241.1:p.Lys1537Asn
ENST00000680133.1:c.4497G>C	ENSP00000505319.1:p.Lys1499Asn
ENST00000680218.1:c.4491G>C	ENSP00000505339.1:p.Lys1497Asn
ENST00000680668.1:c.4497G>C	ENSP00000506336.1:p.Lys1499Asn
ENST00000680778.1:c.2208G>C	ENSP00000506033.1:p.Lys736Asn
ENST00000680924.1:c.*2011G>C	ENSP00000506031.1:n.*2011G>C
ENST00000681135.1:c.*2220G>C	ENSP00000506636.1:n.*2220G>C
ENST00000681298.1:n.1424G>C
ENST00000681454.1:c.*3847G>C	ENSP00000505763.1:n.*3847G>C
ENST00000277541.6:c.4611G>C	ENSP00000277541.6:p.Lys1537Asn
NM_017617.3:c.4611G>C	NP_060087.3:p.Lys1537Asn
XM_011518717.1:c.3912G>C	XP_011517019.1:p.Lys1304Asn
NM_017617.5:c.4611G>C MANE Select	NP_060087.3:p.Lys1537Asn
XM_011518717.2:c.3888G>C	XP_011517019.2:p.Lys1296Asn