Canonical Allele Identifier: CA375631847

Gene: NOTCH1

Linked Data

• MyVariant Identifiers: chr9:g.139391799C>A (hg19) ; chr9:g.136497347C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497347C>A , CM000671.2:g.136497347C>A	GRCh38
NC_000009.11:g.139391799C>A , CM000671.1:g.139391799C>A	GRCh37
NC_000009.10:g.138511620C>A	NCBI36
NG_007458.1:g.53440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6392G>T MANE Select	ENSP00000498587.1:p.Gly2131Val
ENST00000679595.1:c.*1432G>T	ENSP00000506241.1:n.*1432G>T
ENST00000679969.1:n.2988G>T
ENST00000680003.1:n.2724G>T
ENST00000680133.1:c.6278G>T	ENSP00000505319.1:p.Gly2093Val
ENST00000680218.1:c.6272G>T	ENSP00000505339.1:p.Gly2091Val
ENST00000680668.1:c.6278G>T	ENSP00000506336.1:p.Gly2093Val
ENST00000680778.1:c.3989G>T	ENSP00000506033.1:p.Gly1330Val
ENST00000680924.1:c.*3792G>T	ENSP00000506031.1:n.*3792G>T
ENST00000681135.1:c.*4001G>T	ENSP00000506636.1:n.*4001G>T
ENST00000681298.1:n.4497G>T
ENST00000681454.1:c.*5628G>T	ENSP00000505763.1:n.*5628G>T
ENST00000277541.6:c.6392G>T	ENSP00000277541.6:p.Gly2131Val
NM_017617.3:c.6392G>T	NP_060087.3:p.Gly2131Val
XM_011518717.1:c.5693G>T	XP_011517019.1:p.Gly1898Val
NM_017617.5:c.6392G>T MANE Select	NP_060087.3:p.Gly2131Val
XM_011518717.2:c.5669G>T	XP_011517019.2:p.Gly1890Val