Canonical Allele Identifier: CA375644197

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133335848
• gnomAD v4: 9-136504724-C-A
• MyVariant Identifiers: chr9:g.139399176C>A (hg19) ; chr9:g.136504724C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504724C>A , CM000671.2:g.136504724C>A	GRCh38
NC_000009.11:g.139399176C>A , CM000671.1:g.139399176C>A	GRCh37
NC_000009.10:g.138518997C>A	NCBI36
NG_007458.1:g.46063G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2774G>T
ENST00000651671.1:c.4967G>T MANE Select	ENSP00000498587.1:p.Gly1656Val
ENST00000679595.1:c.4967G>T	ENSP00000506241.1:p.Gly1656Val
ENST00000680133.1:c.4853G>T	ENSP00000505319.1:p.Gly1618Val
ENST00000680218.1:c.4847G>T	ENSP00000505339.1:p.Gly1616Val
ENST00000680668.1:c.4853G>T	ENSP00000506336.1:p.Gly1618Val
ENST00000680778.1:c.2564G>T	ENSP00000506033.1:p.Gly855Val
ENST00000680924.1:c.*2367G>T	ENSP00000506031.1:n.*2367G>T
ENST00000681135.1:c.*2576G>T	ENSP00000506636.1:n.*2576G>T
ENST00000681298.1:n.1780G>T
ENST00000681454.1:c.*4203G>T	ENSP00000505763.1:n.*4203G>T
ENST00000277541.6:c.4967G>T	ENSP00000277541.6:p.Gly1656Val
ENST00000494783.1:n.122G>T
NM_017617.3:c.4967G>T	NP_060087.3:p.Gly1656Val
XM_011518717.1:c.4268G>T	XP_011517019.1:p.Gly1423Val
NM_017617.5:c.4967G>T MANE Select	NP_060087.3:p.Gly1656Val
XM_011518717.2:c.4244G>T	XP_011517019.2:p.Gly1415Val