Canonical Allele Identifier: CA375631536

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133318339
• MyVariant Identifiers: chr9:g.139391706C>A (hg19) ; chr9:g.136497254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497254C>A , CM000671.2:g.136497254C>A	GRCh38
NC_000009.11:g.139391706C>A , CM000671.1:g.139391706C>A	GRCh37
NC_000009.10:g.138511527C>A	NCBI36
NG_007458.1:g.53533G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6485G>T MANE Select	ENSP00000498587.1:p.Ser2162Ile
ENST00000679595.1:c.*1525G>T	ENSP00000506241.1:n.*1525G>T
ENST00000679969.1:n.3081G>T
ENST00000680003.1:n.2817G>T
ENST00000680133.1:c.6371G>T	ENSP00000505319.1:p.Ser2124Ile
ENST00000680218.1:c.6365G>T	ENSP00000505339.1:p.Ser2122Ile
ENST00000680668.1:c.6371G>T	ENSP00000506336.1:p.Ser2124Ile
ENST00000680778.1:c.4082G>T	ENSP00000506033.1:p.Ser1361Ile
ENST00000680924.1:c.*3885G>T	ENSP00000506031.1:n.*3885G>T
ENST00000681135.1:c.*4094G>T	ENSP00000506636.1:n.*4094G>T
ENST00000681298.1:n.4590G>T
ENST00000681454.1:c.*5721G>T	ENSP00000505763.1:n.*5721G>T
ENST00000277541.6:c.6485G>T	ENSP00000277541.6:p.Ser2162Ile
NM_017617.3:c.6485G>T	NP_060087.3:p.Ser2162Ile
XM_011518717.1:c.5786G>T	XP_011517019.1:p.Ser1929Ile
NM_017617.5:c.6485G>T MANE Select	NP_060087.3:p.Ser2162Ile
XM_011518717.2:c.5762G>T	XP_011517019.2:p.Ser1921Ile