Canonical Allele Identifier: CA375631257

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133317990
• MyVariant Identifiers: chr9:g.139391630C>A (hg19) ; chr9:g.136497178C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6561G>T MANE Select	ENSP00000498587.1:p.Lys2187Asn
ENST00000679595.1:c.*1601G>T	ENSP00000506241.1:n.*1601G>T
ENST00000679969.1:n.3157G>T
ENST00000680003.1:n.2893G>T
ENST00000680133.1:c.6447G>T	ENSP00000505319.1:p.Lys2149Asn
ENST00000680218.1:c.6441G>T	ENSP00000505339.1:p.Lys2147Asn
ENST00000680668.1:c.6447G>T	ENSP00000506336.1:p.Lys2149Asn
ENST00000680778.1:c.4158G>T	ENSP00000506033.1:p.Lys1386Asn
ENST00000680924.1:c.*3961G>T	ENSP00000506031.1:n.*3961G>T
ENST00000681135.1:c.*4170G>T	ENSP00000506636.1:n.*4170G>T
ENST00000681298.1:n.4666G>T
ENST00000681454.1:c.*5797G>T	ENSP00000505763.1:n.*5797G>T
ENST00000277541.6:c.6561G>T	ENSP00000277541.6:p.Lys2187Asn
NM_017617.3:c.6561G>T	NP_060087.3:p.Lys2187Asn
XM_011518717.1:c.5862G>T	XP_011517019.1:p.Lys1954Asn
NM_017617.5:c.6561G>T MANE Select	NP_060087.3:p.Lys2187Asn
XM_011518717.2:c.5838G>T	XP_011517019.2:p.Lys1946Asn