Canonical Allele Identifier: CA5339889

Gene: NOTCH1

Linked Data

• dbSNP Id: rs757587647
• ExAC: 9:139391708 G / A
• gnomAD v2: 9-139391708-G-A
• gnomAD v4: 9-136497256-G-A
• MyVariant Identifiers: chr9:g.139391708G>A (hg19) ; chr9:g.136497256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136497256G>A , CM000671.2:g.136497256G>A	GRCh38
NC_000009.11:g.139391708G>A , CM000671.1:g.139391708G>A	GRCh37
NC_000009.10:g.138511529G>A	NCBI36
NG_007458.1:g.53531C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000651671.1:c.6483C>T MANE Select	ENSP00000498587.1:p.Pro2161=
ENST00000679595.1:c.*1523C>T	ENSP00000506241.1:n.*1523C>T
ENST00000679969.1:n.3079C>T
ENST00000680003.1:n.2815C>T
ENST00000680133.1:c.6369C>T	ENSP00000505319.1:p.Pro2123=
ENST00000680218.1:c.6363C>T	ENSP00000505339.1:p.Pro2121=
ENST00000680668.1:c.6369C>T	ENSP00000506336.1:p.Pro2123=
ENST00000680778.1:c.4080C>T	ENSP00000506033.1:p.Pro1360=
ENST00000680924.1:c.*3883C>T	ENSP00000506031.1:n.*3883C>T
ENST00000681135.1:c.*4092C>T	ENSP00000506636.1:n.*4092C>T
ENST00000681298.1:n.4588C>T
ENST00000681454.1:c.*5719C>T	ENSP00000505763.1:n.*5719C>T
ENST00000277541.6:c.6483C>T	ENSP00000277541.6:p.Pro2161=
NM_017617.3:c.6483C>T	NP_060087.3:p.Pro2161=
XM_011518717.1:c.5784C>T	XP_011517019.1:p.Pro1928=
NM_017617.5:c.6483C>T MANE Select	NP_060087.3:p.Pro2161=
XM_011518717.2:c.5760C>T	XP_011517019.2:p.Pro1920=