Canonical Allele Identifier: CA467832603

Gene: NOTCH1

Linked Data

• dbSNP Id: rs1842933273
• gnomAD v3: 9-136497340-G-A
• gnomAD v4: 9-136497340-G-A
• MyVariant Identifiers: chr9:g.139391792G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497340G>A , CM000671.2:g.136497340G>A	GRCh38
NC_000009.11:g.139391792G>A , CM000671.1:g.139391792G>A	GRCh37
NC_000009.10:g.138511613G>A	NCBI36
NG_007458.1:g.53447C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6399C>T MANE Select	ENSP00000498587.1:p.Pro2133=
ENST00000679595.1:c.*1439C>T	ENSP00000506241.1:n.*1439C>T
ENST00000679969.1:n.2995C>T
ENST00000680003.1:n.2731C>T
ENST00000680133.1:c.6285C>T	ENSP00000505319.1:p.Pro2095=
ENST00000680218.1:c.6279C>T	ENSP00000505339.1:p.Pro2093=
ENST00000680668.1:c.6285C>T	ENSP00000506336.1:p.Pro2095=
ENST00000680778.1:c.3996C>T	ENSP00000506033.1:p.Pro1332=
ENST00000680924.1:c.*3799C>T	ENSP00000506031.1:n.*3799C>T
ENST00000681135.1:c.*4008C>T	ENSP00000506636.1:n.*4008C>T
ENST00000681298.1:n.4504C>T
ENST00000681454.1:c.*5635C>T	ENSP00000505763.1:n.*5635C>T
ENST00000277541.6:c.6399C>T	ENSP00000277541.6:p.Pro2133=
NM_017617.3:c.6399C>T	NP_060087.3:p.Pro2133=
XM_011518717.1:c.5700C>T	XP_011517019.1:p.Pro1900=
NM_017617.5:c.6399C>T MANE Select	NP_060087.3:p.Pro2133=
XM_011518717.2:c.5676C>T	XP_011517019.2:p.Pro1892=