Canonical Allele Identifier: CA467832703

Gene: NOTCH1

Linked Data

• dbSNP Id: rs2133336406
• gnomAD v4: 9-136504837-G-A
• MyVariant Identifiers: chr9:g.139399289G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.136504837G>A , CM000671.2:g.136504837G>A	GRCh38
NC_000009.11:g.139399289G>A , CM000671.1:g.139399289G>A	GRCh37
NC_000009.10:g.138519110G>A	NCBI36
NG_007458.1:g.45950C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000645828.1:n.2661C>T
ENST00000651671.1:c.4854C>T MANE Select	ENSP00000498587.1:p.Pro1618=
ENST00000679595.1:c.4854C>T	ENSP00000506241.1:p.Pro1618=
ENST00000680133.1:c.4740C>T	ENSP00000505319.1:p.Pro1580=
ENST00000680218.1:c.4734C>T	ENSP00000505339.1:p.Pro1578=
ENST00000680668.1:c.4740C>T	ENSP00000506336.1:p.Pro1580=
ENST00000680778.1:c.2451C>T	ENSP00000506033.1:p.Pro817=
ENST00000680924.1:c.*2254C>T	ENSP00000506031.1:n.*2254C>T
ENST00000681135.1:c.*2463C>T	ENSP00000506636.1:n.*2463C>T
ENST00000681298.1:n.1667C>T
ENST00000681454.1:c.*4090C>T	ENSP00000505763.1:n.*4090C>T
ENST00000277541.6:c.4854C>T	ENSP00000277541.6:p.Pro1618=
ENST00000494783.1:n.9C>T
NM_017617.3:c.4854C>T	NP_060087.3:p.Pro1618=
XM_011518717.1:c.4155C>T	XP_011517019.1:p.Pro1385=
NM_017617.5:c.4854C>T MANE Select	NP_060087.3:p.Pro1618=
XM_011518717.2:c.4131C>T	XP_011517019.2:p.Pro1377=