Canonical Allele Identifier: CA375644212

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136504728-C-A
• MyVariant Identifiers: chr9:g.139399180C>A (hg19) ; chr9:g.136504728C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504728C>A , CM000671.2:g.136504728C>A	GRCh38
NC_000009.11:g.139399180C>A , CM000671.1:g.139399180C>A	GRCh37
NC_000009.10:g.138519001C>A	NCBI36
NG_007458.1:g.46059G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2770G>T
ENST00000651671.1:c.4963G>T MANE Select	ENSP00000498587.1:p.Gly1655Cys
ENST00000679595.1:c.4963G>T	ENSP00000506241.1:p.Gly1655Cys
ENST00000680133.1:c.4849G>T	ENSP00000505319.1:p.Gly1617Cys
ENST00000680218.1:c.4843G>T	ENSP00000505339.1:p.Gly1615Cys
ENST00000680668.1:c.4849G>T	ENSP00000506336.1:p.Gly1617Cys
ENST00000680778.1:c.2560G>T	ENSP00000506033.1:p.Gly854Cys
ENST00000680924.1:c.*2363G>T	ENSP00000506031.1:n.*2363G>T
ENST00000681135.1:c.*2572G>T	ENSP00000506636.1:n.*2572G>T
ENST00000681298.1:n.1776G>T
ENST00000681454.1:c.*4199G>T	ENSP00000505763.1:n.*4199G>T
ENST00000277541.6:c.4963G>T	ENSP00000277541.6:p.Gly1655Cys
ENST00000494783.1:n.118G>T
NM_017617.3:c.4963G>T	NP_060087.3:p.Gly1655Cys
XM_011518717.1:c.4264G>T	XP_011517019.1:p.Gly1422Cys
NM_017617.5:c.4963G>T MANE Select	NP_060087.3:p.Gly1655Cys
XM_011518717.2:c.4240G>T	XP_011517019.2:p.Gly1414Cys