Canonical Allele Identifier: CA375645800

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133337612
• MyVariant Identifiers: chr9:g.139399501C>A (hg19) ; chr9:g.136505049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136505049C>A , CM000671.2:g.136505049C>A	GRCh38
NC_000009.11:g.139399501C>A , CM000671.1:g.139399501C>A	GRCh37
NC_000009.10:g.138519322C>A	NCBI36
NG_007458.1:g.45738G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2449G>T
ENST00000651671.1:c.4642G>T MANE Select	ENSP00000498587.1:p.Gly1548Cys
ENST00000679595.1:c.4642G>T	ENSP00000506241.1:p.Gly1548Cys
ENST00000680133.1:c.4528G>T	ENSP00000505319.1:p.Gly1510Cys
ENST00000680218.1:c.4522G>T	ENSP00000505339.1:p.Gly1508Cys
ENST00000680668.1:c.4528G>T	ENSP00000506336.1:p.Gly1510Cys
ENST00000680778.1:c.2239G>T	ENSP00000506033.1:p.Gly747Cys
ENST00000680924.1:c.*2042G>T	ENSP00000506031.1:n.*2042G>T
ENST00000681135.1:c.*2251G>T	ENSP00000506636.1:n.*2251G>T
ENST00000681298.1:n.1455G>T
ENST00000681454.1:c.*3878G>T	ENSP00000505763.1:n.*3878G>T
ENST00000277541.6:c.4642G>T	ENSP00000277541.6:p.Gly1548Cys
NM_017617.3:c.4642G>T	NP_060087.3:p.Gly1548Cys
XM_011518717.1:c.3943G>T	XP_011517019.1:p.Gly1315Cys
NM_017617.5:c.4642G>T MANE Select	NP_060087.3:p.Gly1548Cys
XM_011518717.2:c.3919G>T	XP_011517019.2:p.Gly1307Cys