Canonical Allele Identifier: CA467832263

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317990
• gnomAD v4: 9-136497178-C-T
• MyVariant Identifiers: chr9:g.139391630C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497178C>T , CM000671.2:g.136497178C>T	GRCh38
NC_000009.11:g.139391630C>T , CM000671.1:g.139391630C>T	GRCh37
NC_000009.10:g.138511451C>T	NCBI36
NG_007458.1:g.53609G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6561G>A MANE Select	ENSP00000498587.1:p.Lys2187=
ENST00000679595.1:c.*1601G>A	ENSP00000506241.1:n.*1601G>A
ENST00000679969.1:n.3157G>A
ENST00000680003.1:n.2893G>A
ENST00000680133.1:c.6447G>A	ENSP00000505319.1:p.Lys2149=
ENST00000680218.1:c.6441G>A	ENSP00000505339.1:p.Lys2147=
ENST00000680668.1:c.6447G>A	ENSP00000506336.1:p.Lys2149=
ENST00000680778.1:c.4158G>A	ENSP00000506033.1:p.Lys1386=
ENST00000680924.1:c.*3961G>A	ENSP00000506031.1:n.*3961G>A
ENST00000681135.1:c.*4170G>A	ENSP00000506636.1:n.*4170G>A
ENST00000681298.1:n.4666G>A
ENST00000681454.1:c.*5797G>A	ENSP00000505763.1:n.*5797G>A
ENST00000277541.6:c.6561G>A	ENSP00000277541.6:p.Lys2187=
NM_017617.3:c.6561G>A	NP_060087.3:p.Lys2187=
XM_011518717.1:c.5862G>A	XP_011517019.1:p.Lys1954=
NM_017617.5:c.6561G>A MANE Select	NP_060087.3:p.Lys2187=
XM_011518717.2:c.5838G>A	XP_011517019.2:p.Lys1946=