Canonical Allele Identifier: CA375631852

Gene: NOTCH1

Linked Data

• gnomAD v4: 9-136497348-C-T
• MyVariant Identifiers: chr9:g.139391800C>T (hg19) ; chr9:g.136497348C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497348C>T , CM000671.2:g.136497348C>T	GRCh38
NC_000009.11:g.139391800C>T , CM000671.1:g.139391800C>T	GRCh37
NC_000009.10:g.138511621C>T	NCBI36
NG_007458.1:g.53439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6391G>A MANE Select	ENSP00000498587.1:p.Gly2131Ser
ENST00000679595.1:c.*1431G>A	ENSP00000506241.1:n.*1431G>A
ENST00000679969.1:n.2987G>A
ENST00000680003.1:n.2723G>A
ENST00000680133.1:c.6277G>A	ENSP00000505319.1:p.Gly2093Ser
ENST00000680218.1:c.6271G>A	ENSP00000505339.1:p.Gly2091Ser
ENST00000680668.1:c.6277G>A	ENSP00000506336.1:p.Gly2093Ser
ENST00000680778.1:c.3988G>A	ENSP00000506033.1:p.Gly1330Ser
ENST00000680924.1:c.*3791G>A	ENSP00000506031.1:n.*3791G>A
ENST00000681135.1:c.*4000G>A	ENSP00000506636.1:n.*4000G>A
ENST00000681298.1:n.4496G>A
ENST00000681454.1:c.*5627G>A	ENSP00000505763.1:n.*5627G>A
ENST00000277541.6:c.6391G>A	ENSP00000277541.6:p.Gly2131Ser
NM_017617.3:c.6391G>A	NP_060087.3:p.Gly2131Ser
XM_011518717.1:c.5692G>A	XP_011517019.1:p.Gly1898Ser
NM_017617.5:c.6391G>A MANE Select	NP_060087.3:p.Gly2131Ser
XM_011518717.2:c.5668G>A	XP_011517019.2:p.Gly1890Ser