Canonical Allele Identifier: CA375633824

Gene: NOTCH1

Linked Data

• ClinVar Variation Id: 659754
• ClinVar RCV Id: RCV000816806
• dbSNP Id: rs1589054356
• MyVariant Identifiers: chr9:g.139393379C>G (hg19) ; chr9:g.136498927C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498927C>G , CM000671.2:g.136498927C>G	GRCh38
NC_000009.11:g.139393379C>G , CM000671.1:g.139393379C>G	GRCh37
NC_000009.10:g.138513200C>G	NCBI36
NG_007458.1:g.51860G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6152G>C MANE Select	ENSP00000498587.1:p.Gly2051Ala
ENST00000679595.1:c.*1192G>C	ENSP00000506241.1:n.*1192G>C
ENST00000679969.1:n.2748G>C
ENST00000680003.1:n.2484G>C
ENST00000680133.1:c.6038G>C	ENSP00000505319.1:p.Gly2013Ala
ENST00000680218.1:c.6032G>C	ENSP00000505339.1:p.Gly2011Ala
ENST00000680668.1:c.6038G>C	ENSP00000506336.1:p.Gly2013Ala
ENST00000680778.1:c.3749G>C	ENSP00000506033.1:p.Gly1250Ala
ENST00000680924.1:c.*3552G>C	ENSP00000506031.1:n.*3552G>C
ENST00000681135.1:c.*3761G>C	ENSP00000506636.1:n.*3761G>C
ENST00000681298.1:n.4257G>C
ENST00000681454.1:c.*5388G>C	ENSP00000505763.1:n.*5388G>C
ENST00000277541.6:c.6152G>C	ENSP00000277541.6:p.Gly2051Ala
NM_017617.3:c.6152G>C	NP_060087.3:p.Gly2051Ala
XM_011518717.1:c.5453G>C	XP_011517019.1:p.Gly1818Ala
NM_017617.5:c.6152G>C MANE Select	NP_060087.3:p.Gly2051Ala
XM_011518717.2:c.5429G>C	XP_011517019.2:p.Gly1810Ala