Canonical Allele Identifier: CA375633859

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1477785
• ClinVar RCV Id: RCV001971762
• dbSNP Id: rs2133321599
• MyVariant Identifiers: chr9:g.139393384C>G (hg19) ; chr9:g.136498932C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498932C>G , CM000671.2:g.136498932C>G	GRCh38
NC_000009.11:g.139393384C>G , CM000671.1:g.139393384C>G	GRCh37
NC_000009.10:g.138513205C>G	NCBI36
NG_007458.1:g.51855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6147G>C MANE Select	ENSP00000498587.1:p.Lys2049Asn
ENST00000679595.1:c.*1187G>C	ENSP00000506241.1:n.*1187G>C
ENST00000679969.1:n.2743G>C
ENST00000680003.1:n.2479G>C
ENST00000680133.1:c.6033G>C	ENSP00000505319.1:p.Lys2011Asn
ENST00000680218.1:c.6027G>C	ENSP00000505339.1:p.Lys2009Asn
ENST00000680668.1:c.6033G>C	ENSP00000506336.1:p.Lys2011Asn
ENST00000680778.1:c.3744G>C	ENSP00000506033.1:p.Lys1248Asn
ENST00000680924.1:c.*3547G>C	ENSP00000506031.1:n.*3547G>C
ENST00000681135.1:c.*3756G>C	ENSP00000506636.1:n.*3756G>C
ENST00000681298.1:n.4252G>C
ENST00000681454.1:c.*5383G>C	ENSP00000505763.1:n.*5383G>C
ENST00000277541.6:c.6147G>C	ENSP00000277541.6:p.Lys2049Asn
NM_017617.3:c.6147G>C	NP_060087.3:p.Lys2049Asn
XM_011518717.1:c.5448G>C	XP_011517019.1:p.Lys1816Asn
NM_017617.5:c.6147G>C MANE Select	NP_060087.3:p.Lys2049Asn
XM_011518717.2:c.5424G>C	XP_011517019.2:p.Lys1808Asn