Canonical Allele Identifier: CA5339875

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 1415929
• ClinVar RCV Id: RCV001933332 ; RCV003481186
• dbSNP Id: rs746372139
• ExAC: 9:139391649 T / C
• gnomAD v2: 9-139391649-T-C
• gnomAD v3: 9-136497197-T-C
• gnomAD v4: 9-136497197-T-C
• MyVariant Identifiers: chr9:g.139391649T>C (hg19) ; chr9:g.136497197T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497197T>C , CM000671.2:g.136497197T>C	GRCh38
NC_000009.11:g.139391649T>C , CM000671.1:g.139391649T>C	GRCh37
NC_000009.10:g.138511470T>C	NCBI36
NG_007458.1:g.53590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6542A>G MANE Select	ENSP00000498587.1:p.Lys2181Arg
ENST00000679595.1:c.*1582A>G	ENSP00000506241.1:n.*1582A>G
ENST00000679969.1:n.3138A>G
ENST00000680003.1:n.2874A>G
ENST00000680133.1:c.6428A>G	ENSP00000505319.1:p.Lys2143Arg
ENST00000680218.1:c.6422A>G	ENSP00000505339.1:p.Lys2141Arg
ENST00000680668.1:c.6428A>G	ENSP00000506336.1:p.Lys2143Arg
ENST00000680778.1:c.4139A>G	ENSP00000506033.1:p.Lys1380Arg
ENST00000680924.1:c.*3942A>G	ENSP00000506031.1:n.*3942A>G
ENST00000681135.1:c.*4151A>G	ENSP00000506636.1:n.*4151A>G
ENST00000681298.1:n.4647A>G
ENST00000681454.1:c.*5778A>G	ENSP00000505763.1:n.*5778A>G
ENST00000277541.6:c.6542A>G	ENSP00000277541.6:p.Lys2181Arg
NM_017617.3:c.6542A>G	NP_060087.3:p.Lys2181Arg
XM_011518717.1:c.5843A>G	XP_011517019.1:p.Lys1948Arg
NM_017617.5:c.6542A>G MANE Select	NP_060087.3:p.Lys2181Arg
XM_011518717.2:c.5819A>G	XP_011517019.2:p.Lys1940Arg