Canonical Allele Identifier: CA467738154

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133321742
• MyVariant Identifiers: chr9:g.139393408C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136498956C>A , CM000671.2:g.136498956C>A	GRCh38
NC_000009.11:g.139393408C>A , CM000671.1:g.139393408C>A	GRCh37
NC_000009.10:g.138513229C>A	NCBI36
NG_007458.1:g.51831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6123G>T MANE Select	ENSP00000498587.1:p.Val2041=
ENST00000679595.1:c.*1163G>T	ENSP00000506241.1:n.*1163G>T
ENST00000679969.1:n.2719G>T
ENST00000680003.1:n.2455G>T
ENST00000680133.1:c.6009G>T	ENSP00000505319.1:p.Val2003=
ENST00000680218.1:c.6003G>T	ENSP00000505339.1:p.Val2001=
ENST00000680668.1:c.6009G>T	ENSP00000506336.1:p.Val2003=
ENST00000680778.1:c.3720G>T	ENSP00000506033.1:p.Val1240=
ENST00000680924.1:c.*3523G>T	ENSP00000506031.1:n.*3523G>T
ENST00000681135.1:c.*3732G>T	ENSP00000506636.1:n.*3732G>T
ENST00000681298.1:n.4228G>T
ENST00000681454.1:c.*5359G>T	ENSP00000505763.1:n.*5359G>T
ENST00000277541.6:c.6123G>T	ENSP00000277541.6:p.Val2041=
NM_017617.3:c.6123G>T	NP_060087.3:p.Val2041=
XM_011518717.1:c.5424G>T	XP_011517019.1:p.Val1808=
NM_017617.5:c.6123G>T MANE Select	NP_060087.3:p.Val2041=
XM_011518717.2:c.5400G>T	XP_011517019.2:p.Val1800=