Canonical Allele Identifier: CA467832337

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391654C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497202C>A , CM000671.2:g.136497202C>A	GRCh38
NC_000009.11:g.139391654C>A , CM000671.1:g.139391654C>A	GRCh37
NC_000009.10:g.138511475C>A	NCBI36
NG_007458.1:g.53585G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6537G>T MANE Select	ENSP00000498587.1:p.Arg2179=
ENST00000679595.1:c.*1577G>T	ENSP00000506241.1:n.*1577G>T
ENST00000679969.1:n.3133G>T
ENST00000680003.1:n.2869G>T
ENST00000680133.1:c.6423G>T	ENSP00000505319.1:p.Arg2141=
ENST00000680218.1:c.6417G>T	ENSP00000505339.1:p.Arg2139=
ENST00000680668.1:c.6423G>T	ENSP00000506336.1:p.Arg2141=
ENST00000680778.1:c.4134G>T	ENSP00000506033.1:p.Arg1378=
ENST00000680924.1:c.*3937G>T	ENSP00000506031.1:n.*3937G>T
ENST00000681135.1:c.*4146G>T	ENSP00000506636.1:n.*4146G>T
ENST00000681298.1:n.4642G>T
ENST00000681454.1:c.*5773G>T	ENSP00000505763.1:n.*5773G>T
ENST00000277541.6:c.6537G>T	ENSP00000277541.6:p.Arg2179=
NM_017617.3:c.6537G>T	NP_060087.3:p.Arg2179=
XM_011518717.1:c.5838G>T	XP_011517019.1:p.Arg1946=
NM_017617.5:c.6537G>T MANE Select	NP_060087.3:p.Arg2179=
XM_011518717.2:c.5814G>T	XP_011517019.2:p.Arg1938=