Canonical Allele Identifier: CA375645702

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337537
• MyVariant Identifiers: chr9:g.139399483A>G (hg19) ; chr9:g.136505031A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505031A>G , CM000671.2:g.136505031A>G	GRCh38
NC_000009.11:g.139399483A>G , CM000671.1:g.139399483A>G	GRCh37
NC_000009.10:g.138519304A>G	NCBI36
NG_007458.1:g.45756T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2467T>C
ENST00000651671.1:c.4660T>C MANE Select	ENSP00000498587.1:p.Cys1554Arg
ENST00000679595.1:c.4660T>C	ENSP00000506241.1:p.Cys1554Arg
ENST00000680133.1:c.4546T>C	ENSP00000505319.1:p.Cys1516Arg
ENST00000680218.1:c.4540T>C	ENSP00000505339.1:p.Cys1514Arg
ENST00000680668.1:c.4546T>C	ENSP00000506336.1:p.Cys1516Arg
ENST00000680778.1:c.2257T>C	ENSP00000506033.1:p.Cys753Arg
ENST00000680924.1:c.*2060T>C	ENSP00000506031.1:n.*2060T>C
ENST00000681135.1:c.*2269T>C	ENSP00000506636.1:n.*2269T>C
ENST00000681298.1:n.1473T>C
ENST00000681454.1:c.*3896T>C	ENSP00000505763.1:n.*3896T>C
ENST00000277541.6:c.4660T>C	ENSP00000277541.6:p.Cys1554Arg
NM_017617.3:c.4660T>C	NP_060087.3:p.Cys1554Arg
XM_011518717.1:c.3961T>C	XP_011517019.1:p.Cys1321Arg
NM_017617.5:c.4660T>C MANE Select	NP_060087.3:p.Cys1554Arg
XM_011518717.2:c.3937T>C	XP_011517019.2:p.Cys1313Arg