Canonical Allele Identifier: CA467832398

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391684T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497232T>A , CM000671.2:g.136497232T>A	GRCh38
NC_000009.11:g.139391684T>A , CM000671.1:g.139391684T>A	GRCh37
NC_000009.10:g.138511505T>A	NCBI36
NG_007458.1:g.53555A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6507A>T MANE Select	ENSP00000498587.1:p.Gly2169=
ENST00000679595.1:c.*1547A>T	ENSP00000506241.1:n.*1547A>T
ENST00000679969.1:n.3103A>T
ENST00000680003.1:n.2839A>T
ENST00000680133.1:c.6393A>T	ENSP00000505319.1:p.Gly2131=
ENST00000680218.1:c.6387A>T	ENSP00000505339.1:p.Gly2129=
ENST00000680668.1:c.6393A>T	ENSP00000506336.1:p.Gly2131=
ENST00000680778.1:c.4104A>T	ENSP00000506033.1:p.Gly1368=
ENST00000680924.1:c.*3907A>T	ENSP00000506031.1:n.*3907A>T
ENST00000681135.1:c.*4116A>T	ENSP00000506636.1:n.*4116A>T
ENST00000681298.1:n.4612A>T
ENST00000681454.1:c.*5743A>T	ENSP00000505763.1:n.*5743A>T
ENST00000277541.6:c.6507A>T	ENSP00000277541.6:p.Gly2169=
NM_017617.3:c.6507A>T	NP_060087.3:p.Gly2169=
XM_011518717.1:c.5808A>T	XP_011517019.1:p.Gly1936=
NM_017617.5:c.6507A>T MANE Select	NP_060087.3:p.Gly2169=
XM_011518717.2:c.5784A>T	XP_011517019.2:p.Gly1928=